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Items: 1 to 20 of 485

1.

rs1489813158 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    17:7101483 (GRCh38)
    17:7004802 (GRCh37)
    Canonical SPDI:
    NC_000017.11:7101482:G:C
    Gene:
    ASGR2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000017.11:g.7101483G>C, NC_000017.10:g.7004802G>C, NG_029064.1:g.18329C>G, NM_001181.4:c.*92C>G, NM_080912.3:c.*92C>G, NM_080913.3:c.*92C>G, NM_001201352.2:c.*92C>G, NM_001201352.1:c.*92C>G, NM_080914.2:c.*92C>G, XM_011523864.4:c.*92C>G, XM_011523864.3:c.*92C>G, XM_011523864.2:c.*92C>G, XM_011523864.1:c.*92C>G, XM_011523862.4:c.*92C>G, XM_011523862.3:c.*92C>G, XM_011523862.2:c.*92C>G, XM_011523862.1:c.*92C>G, XM_011523863.4:c.*92C>G, XM_011523863.3:c.*92C>G, XM_011523863.2:c.*92C>G, XM_011523863.1:c.*92C>G, XM_006721526.3:c.*92C>G, XM_006721526.2:c.*92C>G, XM_006721526.1:c.*92C>G, XM_006721524.3:c.*92C>G, XM_006721524.2:c.*92C>G, XM_006721524.1:c.*92C>G, XM_024450756.2:c.*92C>G, XM_024450756.1:c.*92C>G, XM_017024651.2:c.*92C>G, XM_017024651.1:c.*92C>G, XM_024450757.2:c.*92C>G, XM_024450757.1:c.*92C>G, XM_047436090.1:c.*92C>G, XM_047436091.1:c.*92C>G, XM_047436089.1:c.*92C>G, XM_024450755.1:c.*92C>G

    2.

    rs1489576897 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      17:7114282 (GRCh38)
      17:7017601 (GRCh37)
      Canonical SPDI:
      NC_000017.11:7114281:C:A
      Gene:
      ASGR2 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,coding_sequence_variant,missense_variant
      HGVS:
      NC_000017.11:g.7114282C>A, NC_000017.10:g.7017601C>A, NG_029064.1:g.5530G>T, NM_001181.4:c.-42G>T, NM_080912.3:c.-42G>T, NM_080913.3:c.-42G>T, NM_001201352.2:c.-42G>T, NM_001201352.1:c.-42G>T, NM_080914.2:c.-42G>T, XM_011523864.4:c.-42G>T, XM_011523864.3:c.-42G>T, XM_011523864.2:c.-42G>T, XM_011523864.1:c.-42G>T, XM_011523862.4:c.235G>T, XM_011523862.3:c.235G>T, XM_011523862.2:c.235G>T, XM_011523862.1:c.-42G>T, XM_011523863.4:c.-42G>T, XM_011523863.3:c.-42G>T, XM_011523863.2:c.-42G>T, XM_011523863.1:c.-42G>T, XM_006721526.3:c.-42G>T, XM_006721526.2:c.-42G>T, XM_006721526.1:c.-42G>T, XM_006721524.3:c.-42G>T, XM_006721524.2:c.-42G>T, XM_006721524.1:c.268G>T, XM_024450756.2:c.-42G>T, XM_024450756.1:c.-42G>T, XM_017024651.2:c.-42G>T, XM_017024651.1:c.-42G>T, XM_024450757.2:c.-42G>T, XM_024450757.1:c.-42G>T, XM_047436090.1:c.-42G>T, XM_047436091.1:c.-42G>T, XM_047436089.1:c.235G>T, XM_024450755.1:c.235G>T, XP_011522164.2:p.Ala79Ser, XP_047292045.1:p.Ala79Ser, XP_024306523.1:p.Ala79Ser

      3.

      rs1488882875 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:7107874 (GRCh38)
        17:7011193 (GRCh37)
        Canonical SPDI:
        NC_000017.11:7107873:C:T
        Gene:
        ASGR2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000068/3 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000012/3 (GnomAD_exomes)
        T=0.000023/6 (TOPMED)
        HGVS:
        NC_000017.11:g.7107874C>T, NC_000017.10:g.7011193C>T, NG_029064.1:g.11938G>A, NM_001181.4:c.386G>A, NM_080912.3:c.386G>A, NM_080913.3:c.314G>A, NM_001201352.2:c.371G>A, NM_001201352.1:c.371G>A, NM_080914.2:c.329G>A, XM_011523864.4:c.407G>A, XM_011523864.3:c.407G>A, XM_011523864.2:c.407G>A, XM_011523864.1:c.407G>A, XM_011523862.4:c.683G>A, XM_011523862.3:c.683G>A, XM_011523862.2:c.683G>A, XM_011523862.1:c.407G>A, XM_011523863.4:c.350G>A, XM_011523863.3:c.350G>A, XM_011523863.2:c.350G>A, XM_011523863.1:c.350G>A, XM_006721526.3:c.314G>A, XM_006721526.2:c.314G>A, XM_006721526.1:c.314G>A, XM_006721524.3:c.197G>A, XM_006721524.2:c.197G>A, XM_006721524.1:c.506G>A, XM_024450756.2:c.371G>A, XM_024450756.1:c.371G>A, XM_017024651.2:c.329G>A, XM_017024651.1:c.329G>A, XM_024450757.2:c.197G>A, XM_024450757.1:c.197G>A, XM_047436090.1:c.407G>A, XM_047436091.1:c.329G>A, XM_047436089.1:c.647G>A, XM_024450755.1:c.590G>A, NP_001172.1:p.Gly129Glu, NP_550434.1:p.Gly129Glu, NP_550435.1:p.Gly105Glu, NP_001188281.1:p.Gly124Glu, NP_550436.1:p.Gly110Glu, XP_011522166.1:p.Gly136Glu, XP_011522164.2:p.Gly228Glu, XP_011522165.1:p.Gly117Glu, XP_006721589.1:p.Gly105Glu, XP_006721587.2:p.Gly66Glu, XP_024306524.1:p.Gly124Glu, XP_016880140.1:p.Gly110Glu, XP_024306525.1:p.Gly66Glu, XP_047292046.1:p.Gly136Glu, XP_047292047.1:p.Gly110Glu, XP_047292045.1:p.Gly216Glu, XP_024306523.1:p.Gly197Glu

        4.

        rs1484718443 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          17:7107027 (GRCh38)
          17:7010346 (GRCh37)
          Canonical SPDI:
          NC_000017.11:7107026:C:A
          Gene:
          ASGR2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0./0 (KOREAN)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000017.11:g.7107027C>A, NC_000017.10:g.7010346C>A, NG_029064.1:g.12785G>T, NM_001181.4:c.636G>T, NM_080912.3:c.636G>T, NM_080913.3:c.564G>T, NM_001201352.2:c.621G>T, NM_001201352.1:c.621G>T, NM_080914.2:c.579G>T, XM_011523864.4:c.657G>T, XM_011523864.3:c.657G>T, XM_011523864.2:c.657G>T, XM_011523864.1:c.657G>T, XM_011523862.4:c.933G>T, XM_011523862.3:c.933G>T, XM_011523862.2:c.933G>T, XM_011523862.1:c.657G>T, XM_011523863.4:c.600G>T, XM_011523863.3:c.600G>T, XM_011523863.2:c.600G>T, XM_011523863.1:c.600G>T, XM_006721526.3:c.564G>T, XM_006721526.2:c.564G>T, XM_006721526.1:c.564G>T, XM_006721524.3:c.447G>T, XM_006721524.2:c.447G>T, XM_006721524.1:c.756G>T, XM_024450756.2:c.621G>T, XM_024450756.1:c.621G>T, XM_017024651.2:c.579G>T, XM_017024651.1:c.579G>T, XM_024450757.2:c.447G>T, XM_024450757.1:c.447G>T, XM_047436090.1:c.657G>T, XM_047436091.1:c.579G>T, XM_047436089.1:c.897G>T, XM_024450755.1:c.840G>T

          5.

          rs1479196726 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            17:7101558 (GRCh38)
            17:7004877 (GRCh37)
            Canonical SPDI:
            NC_000017.11:7101557:C:A
            Gene:
            ASGR2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            HGVS:
            NC_000017.11:g.7101558C>A, NC_000017.10:g.7004877C>A, NG_029064.1:g.18254G>T, NM_001181.4:c.*17G>T, NM_080912.3:c.*17G>T, NM_080913.3:c.*17G>T, NM_001201352.2:c.*17G>T, NM_001201352.1:c.*17G>T, NM_080914.2:c.*17G>T, XM_011523864.4:c.*17G>T, XM_011523864.3:c.*17G>T, XM_011523864.2:c.*17G>T, XM_011523864.1:c.*17G>T, XM_011523862.4:c.*17G>T, XM_011523862.3:c.*17G>T, XM_011523862.2:c.*17G>T, XM_011523862.1:c.*17G>T, XM_011523863.4:c.*17G>T, XM_011523863.3:c.*17G>T, XM_011523863.2:c.*17G>T, XM_011523863.1:c.*17G>T, XM_006721526.3:c.*17G>T, XM_006721526.2:c.*17G>T, XM_006721526.1:c.*17G>T, XM_006721524.3:c.*17G>T, XM_006721524.2:c.*17G>T, XM_006721524.1:c.*17G>T, XM_024450756.2:c.*17G>T, XM_024450756.1:c.*17G>T, XM_017024651.2:c.*17G>T, XM_017024651.1:c.*17G>T, XM_024450757.2:c.*17G>T, XM_024450757.1:c.*17G>T, XM_047436090.1:c.*17G>T, XM_047436091.1:c.*17G>T, XM_047436089.1:c.*17G>T, XM_024450755.1:c.*17G>T

            6.

            rs1477204766 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:7101476 (GRCh38)
              17:7004795 (GRCh37)
              Canonical SPDI:
              NC_000017.11:7101475:T:C
              Gene:
              ASGR2 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000011/3 (TOPMED)
              C=0.000021/3 (GnomAD)
              HGVS:
              NC_000017.11:g.7101476T>C, NC_000017.10:g.7004795T>C, NG_029064.1:g.18336A>G, NM_001181.4:c.*99A>G, NM_080912.3:c.*99A>G, NM_080913.3:c.*99A>G, NM_001201352.2:c.*99A>G, NM_001201352.1:c.*99A>G, NM_080914.2:c.*99A>G, XM_011523864.4:c.*99A>G, XM_011523864.3:c.*99A>G, XM_011523864.2:c.*99A>G, XM_011523864.1:c.*99A>G, XM_011523862.4:c.*99A>G, XM_011523862.3:c.*99A>G, XM_011523862.2:c.*99A>G, XM_011523862.1:c.*99A>G, XM_011523863.4:c.*99A>G, XM_011523863.3:c.*99A>G, XM_011523863.2:c.*99A>G, XM_011523863.1:c.*99A>G, XM_006721526.3:c.*99A>G, XM_006721526.2:c.*99A>G, XM_006721526.1:c.*99A>G, XM_006721524.3:c.*99A>G, XM_006721524.2:c.*99A>G, XM_006721524.1:c.*99A>G, XM_024450756.2:c.*99A>G, XM_024450756.1:c.*99A>G, XM_017024651.2:c.*99A>G, XM_017024651.1:c.*99A>G, XM_024450757.2:c.*99A>G, XM_024450757.1:c.*99A>G, XM_047436090.1:c.*99A>G, XM_047436091.1:c.*99A>G, XM_047436089.1:c.*99A>G, XM_024450755.1:c.*99A>G

              7.

              rs1472444974 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:7107263 (GRCh38)
                17:7010582 (GRCh37)
                Canonical SPDI:
                NC_000017.11:7107262:A:G
                Gene:
                ASGR2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.7107263A>G, NC_000017.10:g.7010582A>G, NG_029064.1:g.12549T>C, NM_001181.4:c.479T>C, NM_080912.3:c.479T>C, NM_080913.3:c.407T>C, NM_001201352.2:c.464T>C, NM_001201352.1:c.464T>C, NM_080914.2:c.422T>C, XM_011523864.4:c.500T>C, XM_011523864.3:c.500T>C, XM_011523864.2:c.500T>C, XM_011523864.1:c.500T>C, XM_011523862.4:c.776T>C, XM_011523862.3:c.776T>C, XM_011523862.2:c.776T>C, XM_011523862.1:c.500T>C, XM_011523863.4:c.443T>C, XM_011523863.3:c.443T>C, XM_011523863.2:c.443T>C, XM_011523863.1:c.443T>C, XM_006721526.3:c.407T>C, XM_006721526.2:c.407T>C, XM_006721526.1:c.407T>C, XM_006721524.3:c.290T>C, XM_006721524.2:c.290T>C, XM_006721524.1:c.599T>C, XM_024450756.2:c.464T>C, XM_024450756.1:c.464T>C, XM_017024651.2:c.422T>C, XM_017024651.1:c.422T>C, XM_024450757.2:c.290T>C, XM_024450757.1:c.290T>C, XM_047436090.1:c.500T>C, XM_047436091.1:c.422T>C, XM_047436089.1:c.740T>C, XM_024450755.1:c.683T>C, NP_001172.1:p.Val160Ala, NP_550434.1:p.Val160Ala, NP_550435.1:p.Val136Ala, NP_001188281.1:p.Val155Ala, NP_550436.1:p.Val141Ala, XP_011522166.1:p.Val167Ala, XP_011522164.2:p.Val259Ala, XP_011522165.1:p.Val148Ala, XP_006721589.1:p.Val136Ala, XP_006721587.2:p.Val97Ala, XP_024306524.1:p.Val155Ala, XP_016880140.1:p.Val141Ala, XP_024306525.1:p.Val97Ala, XP_047292046.1:p.Val167Ala, XP_047292047.1:p.Val141Ala, XP_047292045.1:p.Val247Ala, XP_024306523.1:p.Val228Ala

                8.

                rs1470480180 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:7107069 (GRCh38)
                  17:7010388 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:7107068:C:T
                  Gene:
                  ASGR2 (Varview)
                  Functional Consequence:
                  stop_gained,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000017.11:g.7107069C>T, NC_000017.10:g.7010388C>T, NG_029064.1:g.12743G>A, NM_001181.4:c.594G>A, NM_080912.3:c.594G>A, NM_080913.3:c.522G>A, NM_001201352.2:c.579G>A, NM_001201352.1:c.579G>A, NM_080914.2:c.537G>A, XM_011523864.4:c.615G>A, XM_011523864.3:c.615G>A, XM_011523864.2:c.615G>A, XM_011523864.1:c.615G>A, XM_011523862.4:c.891G>A, XM_011523862.3:c.891G>A, XM_011523862.2:c.891G>A, XM_011523862.1:c.615G>A, XM_011523863.4:c.558G>A, XM_011523863.3:c.558G>A, XM_011523863.2:c.558G>A, XM_011523863.1:c.558G>A, XM_006721526.3:c.522G>A, XM_006721526.2:c.522G>A, XM_006721526.1:c.522G>A, XM_006721524.3:c.405G>A, XM_006721524.2:c.405G>A, XM_006721524.1:c.714G>A, XM_024450756.2:c.579G>A, XM_024450756.1:c.579G>A, XM_017024651.2:c.537G>A, XM_017024651.1:c.537G>A, XM_024450757.2:c.405G>A, XM_024450757.1:c.405G>A, XM_047436090.1:c.615G>A, XM_047436091.1:c.537G>A, XM_047436089.1:c.855G>A, XM_024450755.1:c.798G>A, NP_001172.1:p.Trp198Ter, NP_550434.1:p.Trp198Ter, NP_550435.1:p.Trp174Ter, NP_001188281.1:p.Trp193Ter, NP_550436.1:p.Trp179Ter, XP_011522166.1:p.Trp205Ter, XP_011522164.2:p.Trp297Ter, XP_011522165.1:p.Trp186Ter, XP_006721589.1:p.Trp174Ter, XP_006721587.2:p.Trp135Ter, XP_024306524.1:p.Trp193Ter, XP_016880140.1:p.Trp179Ter, XP_024306525.1:p.Trp135Ter, XP_047292046.1:p.Trp205Ter, XP_047292047.1:p.Trp179Ter, XP_047292045.1:p.Trp285Ter, XP_024306523.1:p.Trp266Ter

                  9.

                  rs1469196105 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    17:7107076 (GRCh38)
                    17:7010395 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7107075:T:A
                    Gene:
                    ASGR2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    NC_000017.11:g.7107076T>A, NC_000017.10:g.7010395T>A, NG_029064.1:g.12736A>T, NM_001181.4:c.587A>T, NM_080912.3:c.587A>T, NM_080913.3:c.515A>T, NM_001201352.2:c.572A>T, NM_001201352.1:c.572A>T, NM_080914.2:c.530A>T, XM_011523864.4:c.608A>T, XM_011523864.3:c.608A>T, XM_011523864.2:c.608A>T, XM_011523864.1:c.608A>T, XM_011523862.4:c.884A>T, XM_011523862.3:c.884A>T, XM_011523862.2:c.884A>T, XM_011523862.1:c.608A>T, XM_011523863.4:c.551A>T, XM_011523863.3:c.551A>T, XM_011523863.2:c.551A>T, XM_011523863.1:c.551A>T, XM_006721526.3:c.515A>T, XM_006721526.2:c.515A>T, XM_006721526.1:c.515A>T, XM_006721524.3:c.398A>T, XM_006721524.2:c.398A>T, XM_006721524.1:c.707A>T, XM_024450756.2:c.572A>T, XM_024450756.1:c.572A>T, XM_017024651.2:c.530A>T, XM_017024651.1:c.530A>T, XM_024450757.2:c.398A>T, XM_024450757.1:c.398A>T, XM_047436090.1:c.608A>T, XM_047436091.1:c.530A>T, XM_047436089.1:c.848A>T, XM_024450755.1:c.791A>T, NP_001172.1:p.Lys196Met, NP_550434.1:p.Lys196Met, NP_550435.1:p.Lys172Met, NP_001188281.1:p.Lys191Met, NP_550436.1:p.Lys177Met, XP_011522166.1:p.Lys203Met, XP_011522164.2:p.Lys295Met, XP_011522165.1:p.Lys184Met, XP_006721589.1:p.Lys172Met, XP_006721587.2:p.Lys133Met, XP_024306524.1:p.Lys191Met, XP_016880140.1:p.Lys177Met, XP_024306525.1:p.Lys133Met, XP_047292046.1:p.Lys203Met, XP_047292047.1:p.Lys177Met, XP_047292045.1:p.Lys283Met, XP_024306523.1:p.Lys264Met

                    10.

                    rs1468734684 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      17:7108840 (GRCh38)
                      17:7012159 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:7108839:C:G,NC_000017.11:7108839:C:T
                      Gene:
                      ASGR2 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.7108840C>G, NC_000017.11:g.7108840C>T, NC_000017.10:g.7012159C>G, NC_000017.10:g.7012159C>T, NG_029064.1:g.10972G>C, NG_029064.1:g.10972G>A, NM_001181.4:c.173G>C, NM_001181.4:c.173G>A, NM_080912.3:c.173G>C, NM_080912.3:c.173G>A, NM_080913.3:c.116G>C, NM_080913.3:c.116G>A, NM_001201352.2:c.173G>C, NM_001201352.2:c.173G>A, NM_001201352.1:c.173G>C, NM_001201352.1:c.173G>A, NM_080914.2:c.116G>C, NM_080914.2:c.116G>A, XM_011523864.4:c.173G>C, XM_011523864.4:c.173G>A, XM_011523864.3:c.173G>C, XM_011523864.3:c.173G>A, XM_011523864.2:c.173G>C, XM_011523864.2:c.173G>A, XM_011523864.1:c.173G>C, XM_011523864.1:c.173G>A, XM_011523862.4:c.449G>C, XM_011523862.4:c.449G>A, XM_011523862.3:c.449G>C, XM_011523862.3:c.449G>A, XM_011523862.2:c.449G>C, XM_011523862.2:c.449G>A, XM_011523862.1:c.173G>C, XM_011523862.1:c.173G>A, XM_011523863.4:c.116G>C, XM_011523863.4:c.116G>A, XM_011523863.3:c.116G>C, XM_011523863.3:c.116G>A, XM_011523863.2:c.116G>C, XM_011523863.2:c.116G>A, XM_011523863.1:c.116G>C, XM_011523863.1:c.116G>A, XM_006721526.3:c.116G>C, XM_006721526.3:c.116G>A, XM_006721526.2:c.116G>C, XM_006721526.2:c.116G>A, XM_006721526.1:c.116G>C, XM_006721526.1:c.116G>A, XM_024450756.2:c.173G>C, XM_024450756.2:c.173G>A, XM_024450756.1:c.173G>C, XM_024450756.1:c.173G>A, XM_017024651.2:c.116G>C, XM_017024651.2:c.116G>A, XM_017024651.1:c.116G>C, XM_017024651.1:c.116G>A, XM_047436090.1:c.173G>C, XM_047436090.1:c.173G>A, XM_047436091.1:c.116G>C, XM_047436091.1:c.116G>A, XM_047436089.1:c.449G>C, XM_047436089.1:c.449G>A, XM_024450755.1:c.392G>C, XM_024450755.1:c.392G>A, NP_001172.1:p.Cys58Ser, NP_001172.1:p.Cys58Tyr, NP_550434.1:p.Cys58Ser, NP_550434.1:p.Cys58Tyr, NP_550435.1:p.Cys39Ser, NP_550435.1:p.Cys39Tyr, NP_001188281.1:p.Cys58Ser, NP_001188281.1:p.Cys58Tyr, NP_550436.1:p.Cys39Ser, NP_550436.1:p.Cys39Tyr, XP_011522166.1:p.Cys58Ser, XP_011522166.1:p.Cys58Tyr, XP_011522164.2:p.Cys150Ser, XP_011522164.2:p.Cys150Tyr, XP_011522165.1:p.Cys39Ser, XP_011522165.1:p.Cys39Tyr, XP_006721589.1:p.Cys39Ser, XP_006721589.1:p.Cys39Tyr, XP_024306524.1:p.Cys58Ser, XP_024306524.1:p.Cys58Tyr, XP_016880140.1:p.Cys39Ser, XP_016880140.1:p.Cys39Tyr, XP_047292046.1:p.Cys58Ser, XP_047292046.1:p.Cys58Tyr, XP_047292047.1:p.Cys39Ser, XP_047292047.1:p.Cys39Tyr, XP_047292045.1:p.Cys150Ser, XP_047292045.1:p.Cys150Tyr, XP_024306523.1:p.Cys131Ser, XP_024306523.1:p.Cys131Tyr

                      11.

                      rs1466784736 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        17:7107273 (GRCh38)
                        17:7010592 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:7107272:G:C
                        Gene:
                        ASGR2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000017.11:g.7107273G>C, NC_000017.10:g.7010592G>C, NG_029064.1:g.12539C>G, NM_001181.4:c.469C>G, NM_080912.3:c.469C>G, NM_080913.3:c.397C>G, NM_001201352.2:c.454C>G, NM_001201352.1:c.454C>G, NM_080914.2:c.412C>G, XM_011523864.4:c.490C>G, XM_011523864.3:c.490C>G, XM_011523864.2:c.490C>G, XM_011523864.1:c.490C>G, XM_011523862.4:c.766C>G, XM_011523862.3:c.766C>G, XM_011523862.2:c.766C>G, XM_011523862.1:c.490C>G, XM_011523863.4:c.433C>G, XM_011523863.3:c.433C>G, XM_011523863.2:c.433C>G, XM_011523863.1:c.433C>G, XM_006721526.3:c.397C>G, XM_006721526.2:c.397C>G, XM_006721526.1:c.397C>G, XM_006721524.3:c.280C>G, XM_006721524.2:c.280C>G, XM_006721524.1:c.589C>G, XM_024450756.2:c.454C>G, XM_024450756.1:c.454C>G, XM_017024651.2:c.412C>G, XM_017024651.1:c.412C>G, XM_024450757.2:c.280C>G, XM_024450757.1:c.280C>G, XM_047436090.1:c.490C>G, XM_047436091.1:c.412C>G, XM_047436089.1:c.730C>G, XM_024450755.1:c.673C>G, NP_001172.1:p.Leu157Val, NP_550434.1:p.Leu157Val, NP_550435.1:p.Leu133Val, NP_001188281.1:p.Leu152Val, NP_550436.1:p.Leu138Val, XP_011522166.1:p.Leu164Val, XP_011522164.2:p.Leu256Val, XP_011522165.1:p.Leu145Val, XP_006721589.1:p.Leu133Val, XP_006721587.2:p.Leu94Val, XP_024306524.1:p.Leu152Val, XP_016880140.1:p.Leu138Val, XP_024306525.1:p.Leu94Val, XP_047292046.1:p.Leu164Val, XP_047292047.1:p.Leu138Val, XP_047292045.1:p.Leu244Val, XP_024306523.1:p.Leu225Val

                        12.

                        rs1465689321 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          17:7101482 (GRCh38)
                          17:7004801 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:7101481:T:
                          Gene:
                          ASGR2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.000084/1 (ALFA)
                          -=0.000008/2 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000017.11:g.7101482del, NC_000017.10:g.7004801del, NG_029064.1:g.18330del, NM_001181.4:c.*93del, NM_080912.3:c.*93del, NM_080913.3:c.*93del, NM_001201352.2:c.*93del, NM_001201352.1:c.*93del, NM_080914.2:c.*93del, XM_011523864.4:c.*93del, XM_011523864.3:c.*93del, XM_011523864.2:c.*93del, XM_011523864.1:c.*93del, XM_011523862.4:c.*93del, XM_011523862.3:c.*93del, XM_011523862.2:c.*93del, XM_011523862.1:c.*93del, XM_011523863.4:c.*93del, XM_011523863.3:c.*93del, XM_011523863.2:c.*93del, XM_011523863.1:c.*93del, XM_006721526.3:c.*93del, XM_006721526.2:c.*93del, XM_006721526.1:c.*93del, XM_006721524.3:c.*93del, XM_006721524.2:c.*93del, XM_006721524.1:c.*93del, XM_024450756.2:c.*93del, XM_024450756.1:c.*93del, XM_017024651.2:c.*93del, XM_017024651.1:c.*93del, XM_024450757.2:c.*93del, XM_024450757.1:c.*93del, XM_047436090.1:c.*93del, XM_047436091.1:c.*93del, XM_047436089.1:c.*93del, XM_024450755.1:c.*93del

                          13.

                          rs1464684791 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:7101577 (GRCh38)
                            17:7004896 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:7101576:A:G
                            Gene:
                            ASGR2 (Varview)
                            Functional Consequence:
                            terminator_codon_variant,stop_lost
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000028/1 (ALFA)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000017.11:g.7101577A>G, NC_000017.10:g.7004896A>G, NG_029064.1:g.18235T>C, NM_001181.4:c.934T>C, NM_080912.3:c.934T>C, NM_080913.3:c.862T>C, NM_001201352.2:c.919T>C, NM_001201352.1:c.919T>C, NM_080914.2:c.877T>C, XM_011523864.4:c.955T>C, XM_011523864.3:c.955T>C, XM_011523864.2:c.955T>C, XM_011523864.1:c.955T>C, XM_011523862.4:c.1231T>C, XM_011523862.3:c.1231T>C, XM_011523862.2:c.1231T>C, XM_011523862.1:c.955T>C, XM_011523863.4:c.898T>C, XM_011523863.3:c.898T>C, XM_011523863.2:c.898T>C, XM_011523863.1:c.898T>C, XM_006721526.3:c.862T>C, XM_006721526.2:c.862T>C, XM_006721526.1:c.862T>C, XM_006721524.3:c.745T>C, XM_006721524.2:c.745T>C, XM_006721524.1:c.1054T>C, XM_024450756.2:c.919T>C, XM_024450756.1:c.919T>C, XM_017024651.2:c.877T>C, XM_017024651.1:c.877T>C, XM_024450757.2:c.745T>C, XM_024450757.1:c.745T>C, XM_047436090.1:c.955T>C, XM_047436091.1:c.877T>C, XM_047436089.1:c.1195T>C, XM_024450755.1:c.1138T>C, NP_001172.1:p.Ter312Arg, NP_550434.1:p.Ter312Arg, NP_550435.1:p.Ter288Arg, NP_001188281.1:p.Ter307Arg, NP_550436.1:p.Ter293Arg, XP_011522166.1:p.Ter319Arg, XP_011522164.2:p.Ter411Arg, XP_011522165.1:p.Ter300Arg, XP_006721589.1:p.Ter288Arg, XP_006721587.2:p.Ter249Arg, XP_024306524.1:p.Ter307Arg, XP_016880140.1:p.Ter293Arg, XP_024306525.1:p.Ter249Arg, XP_047292046.1:p.Ter319Arg, XP_047292047.1:p.Ter293Arg, XP_047292045.1:p.Ter399Arg, XP_024306523.1:p.Ter380Arg

                            14.

                            rs1463789050 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:7101682 (GRCh38)
                              17:7005001 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:7101681:C:T
                              Gene:
                              ASGR2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.7101682C>T, NC_000017.10:g.7005001C>T, NG_029064.1:g.18130G>A, NM_001181.4:c.829G>A, NM_080912.3:c.829G>A, NM_080913.3:c.757G>A, NM_001201352.2:c.814G>A, NM_001201352.1:c.814G>A, NM_080914.2:c.772G>A, XM_011523864.4:c.850G>A, XM_011523864.3:c.850G>A, XM_011523864.2:c.850G>A, XM_011523864.1:c.850G>A, XM_011523862.4:c.1126G>A, XM_011523862.3:c.1126G>A, XM_011523862.2:c.1126G>A, XM_011523862.1:c.850G>A, XM_011523863.4:c.793G>A, XM_011523863.3:c.793G>A, XM_011523863.2:c.793G>A, XM_011523863.1:c.793G>A, XM_006721526.3:c.757G>A, XM_006721526.2:c.757G>A, XM_006721526.1:c.757G>A, XM_006721524.3:c.640G>A, XM_006721524.2:c.640G>A, XM_006721524.1:c.949G>A, XM_024450756.2:c.814G>A, XM_024450756.1:c.814G>A, XM_017024651.2:c.772G>A, XM_017024651.1:c.772G>A, XM_024450757.2:c.640G>A, XM_024450757.1:c.640G>A, XM_047436090.1:c.850G>A, XM_047436091.1:c.772G>A, XM_047436089.1:c.1090G>A, XM_024450755.1:c.1033G>A, NP_001172.1:p.Asp277Asn, NP_550434.1:p.Asp277Asn, NP_550435.1:p.Asp253Asn, NP_001188281.1:p.Asp272Asn, NP_550436.1:p.Asp258Asn, XP_011522166.1:p.Asp284Asn, XP_011522164.2:p.Asp376Asn, XP_011522165.1:p.Asp265Asn, XP_006721589.1:p.Asp253Asn, XP_006721587.2:p.Asp214Asn, XP_024306524.1:p.Asp272Asn, XP_016880140.1:p.Asp258Asn, XP_024306525.1:p.Asp214Asn, XP_047292046.1:p.Asp284Asn, XP_047292047.1:p.Asp258Asn, XP_047292045.1:p.Asp364Asn, XP_024306523.1:p.Asp345Asn

                              15.

                              rs1462433380 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GA>-,GAGAGA [Show Flanks]
                                Chromosome:
                                17:7107090 (GRCh38)
                                17:7010409 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:7107085:GAGAGA:GAGA,NC_000017.11:7107085:GAGAGA:GAGAGAGAGA
                                Gene:
                                ASGR2 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GAGAGAGAGA=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000017.11:g.7107086GA[2], NC_000017.11:g.7107086GA[5], NC_000017.10:g.7010405GA[2], NC_000017.10:g.7010405GA[5], NG_029064.1:g.12721TC[2], NG_029064.1:g.12721TC[5], NM_001181.4:c.576_577del, NM_001181.4:c.574_577dup, NM_080912.3:c.576_577del, NM_080912.3:c.574_577dup, NM_080913.3:c.504_505del, NM_080913.3:c.502_505dup, NM_001201352.2:c.561_562del, NM_001201352.2:c.559_562dup, NM_001201352.1:c.561_562del, NM_001201352.1:c.559_562dup, NM_080914.2:c.519_520del, NM_080914.2:c.517_520dup, XM_011523864.4:c.597_598del, XM_011523864.4:c.595_598dup, XM_011523864.3:c.597_598del, XM_011523864.3:c.595_598dup, XM_011523864.2:c.597_598del, XM_011523864.2:c.595_598dup, XM_011523864.1:c.597_598del, XM_011523864.1:c.595_598dup, XM_011523862.4:c.873_874del, XM_011523862.4:c.871_874dup, XM_011523862.3:c.873_874del, XM_011523862.3:c.871_874dup, XM_011523862.2:c.873_874del, XM_011523862.2:c.871_874dup, XM_011523862.1:c.597_598del, XM_011523862.1:c.595_598dup, XM_011523863.4:c.540_541del, XM_011523863.4:c.538_541dup, XM_011523863.3:c.540_541del, XM_011523863.3:c.538_541dup, XM_011523863.2:c.540_541del, XM_011523863.2:c.538_541dup, XM_011523863.1:c.540_541del, XM_011523863.1:c.538_541dup, XM_006721526.3:c.504_505del, XM_006721526.3:c.502_505dup, XM_006721526.2:c.504_505del, XM_006721526.2:c.502_505dup, XM_006721526.1:c.504_505del, XM_006721526.1:c.502_505dup, XM_006721524.3:c.387_388del, XM_006721524.3:c.385_388dup, XM_006721524.2:c.387_388del, XM_006721524.2:c.385_388dup, XM_006721524.1:c.696_697del, XM_006721524.1:c.694_697dup, XM_024450756.2:c.561_562del, XM_024450756.2:c.559_562dup, XM_024450756.1:c.561_562del, XM_024450756.1:c.559_562dup, XM_017024651.2:c.519_520del, XM_017024651.2:c.517_520dup, XM_017024651.1:c.519_520del, XM_017024651.1:c.517_520dup, XM_024450757.2:c.387_388del, XM_024450757.2:c.385_388dup, XM_024450757.1:c.387_388del, XM_024450757.1:c.385_388dup, XM_047436090.1:c.597_598del, XM_047436090.1:c.595_598dup, XM_047436091.1:c.519_520del, XM_047436091.1:c.517_520dup, XM_047436089.1:c.837_838del, XM_047436089.1:c.835_838dup, XM_024450755.1:c.780_781del, XM_024450755.1:c.778_781dup, NP_001172.1:p.His193fs, NP_001172.1:p.His193fs, NP_550434.1:p.His193fs, NP_550434.1:p.His193fs, NP_550435.1:p.His169fs, NP_550435.1:p.His169fs, NP_001188281.1:p.His188fs, NP_001188281.1:p.His188fs, NP_550436.1:p.His174fs, NP_550436.1:p.His174fs, XP_011522166.1:p.His200fs, XP_011522166.1:p.His200fs, XP_011522164.2:p.His292fs, XP_011522164.2:p.His292fs, XP_011522165.1:p.His181fs, XP_011522165.1:p.His181fs, XP_006721589.1:p.His169fs, XP_006721589.1:p.His169fs, XP_006721587.2:p.His130fs, XP_006721587.2:p.His130fs, XP_024306524.1:p.His188fs, XP_024306524.1:p.His188fs, XP_016880140.1:p.His174fs, XP_016880140.1:p.His174fs, XP_024306525.1:p.His130fs, XP_024306525.1:p.His130fs, XP_047292046.1:p.His200fs, XP_047292046.1:p.His200fs, XP_047292047.1:p.His174fs, XP_047292047.1:p.His174fs, XP_047292045.1:p.His280fs, XP_047292045.1:p.His280fs, XP_024306523.1:p.His261fs, XP_024306523.1:p.His261fs

                                16.

                                rs1457961583 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  17:7108532 (GRCh38)
                                  17:7011851 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:7108531:C:A
                                  Gene:
                                  ASGR2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.7108532C>A, NC_000017.10:g.7011851C>A, NG_029064.1:g.11280G>T, NM_001181.4:c.282G>T, NM_080912.3:c.282G>T, NM_080913.3:c.210G>T, NM_001201352.2:c.267G>T, NM_001201352.1:c.267G>T, NM_080914.2:c.225G>T, XM_011523864.4:c.303G>T, XM_011523864.3:c.303G>T, XM_011523864.2:c.303G>T, XM_011523864.1:c.303G>T, XM_011523862.4:c.579G>T, XM_011523862.3:c.579G>T, XM_011523862.2:c.579G>T, XM_011523862.1:c.303G>T, XM_011523863.4:c.246G>T, XM_011523863.3:c.246G>T, XM_011523863.2:c.246G>T, XM_011523863.1:c.246G>T, XM_006721526.3:c.210G>T, XM_006721526.2:c.210G>T, XM_006721526.1:c.210G>T, XM_006721524.3:c.93G>T, XM_006721524.2:c.93G>T, XM_006721524.1:c.402G>T, XM_024450756.2:c.267G>T, XM_024450756.1:c.267G>T, XM_017024651.2:c.225G>T, XM_017024651.1:c.225G>T, XM_024450757.2:c.93G>T, XM_024450757.1:c.93G>T, XM_047436090.1:c.303G>T, XM_047436091.1:c.225G>T, XM_047436089.1:c.543G>T, XM_024450755.1:c.486G>T

                                  17.

                                  rs1457738277 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    17:7114142 (GRCh38)
                                    17:7017461 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:7114141:GGG:GG
                                    Gene:
                                    ASGR2 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GG=0./0 (ALFA)
                                    -=0.000012/3 (GnomAD_exomes)
                                    -=0.000014/2 (GnomAD)
                                    -=0.000015/4 (TOPMED)
                                    -=0.000156/1 (1000Genomes)
                                    HGVS:

                                    18.

                                    rs1457450341 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:7101686 (GRCh38)
                                      17:7005005 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:7101685:A:G
                                      Gene:
                                      ASGR2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.7101686A>G, NC_000017.10:g.7005005A>G, NG_029064.1:g.18126T>C, NM_001181.4:c.825T>C, NM_080912.3:c.825T>C, NM_080913.3:c.753T>C, NM_001201352.2:c.810T>C, NM_001201352.1:c.810T>C, NM_080914.2:c.768T>C, XM_011523864.4:c.846T>C, XM_011523864.3:c.846T>C, XM_011523864.2:c.846T>C, XM_011523864.1:c.846T>C, XM_011523862.4:c.1122T>C, XM_011523862.3:c.1122T>C, XM_011523862.2:c.1122T>C, XM_011523862.1:c.846T>C, XM_011523863.4:c.789T>C, XM_011523863.3:c.789T>C, XM_011523863.2:c.789T>C, XM_011523863.1:c.789T>C, XM_006721526.3:c.753T>C, XM_006721526.2:c.753T>C, XM_006721526.1:c.753T>C, XM_006721524.3:c.636T>C, XM_006721524.2:c.636T>C, XM_006721524.1:c.945T>C, XM_024450756.2:c.810T>C, XM_024450756.1:c.810T>C, XM_017024651.2:c.768T>C, XM_017024651.1:c.768T>C, XM_024450757.2:c.636T>C, XM_024450757.1:c.636T>C, XM_047436090.1:c.846T>C, XM_047436091.1:c.768T>C, XM_047436089.1:c.1086T>C, XM_024450755.1:c.1029T>C

                                      19.

                                      rs1456127608 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:7102135 (GRCh38)
                                        17:7005454 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:7102134:C:T
                                        Gene:
                                        ASGR2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.7102135C>T, NC_000017.10:g.7005454C>T, NG_029064.1:g.17677G>A, NM_001181.4:c.725G>A, NM_080912.3:c.725G>A, NM_080913.3:c.653G>A, NM_001201352.2:c.710G>A, NM_001201352.1:c.710G>A, NM_080914.2:c.668G>A, XM_011523864.4:c.746G>A, XM_011523864.3:c.746G>A, XM_011523864.2:c.746G>A, XM_011523864.1:c.746G>A, XM_011523862.4:c.1022G>A, XM_011523862.3:c.1022G>A, XM_011523862.2:c.1022G>A, XM_011523862.1:c.746G>A, XM_011523863.4:c.689G>A, XM_011523863.3:c.689G>A, XM_011523863.2:c.689G>A, XM_011523863.1:c.689G>A, XM_006721526.3:c.653G>A, XM_006721526.2:c.653G>A, XM_006721526.1:c.653G>A, XM_006721524.3:c.536G>A, XM_006721524.2:c.536G>A, XM_006721524.1:c.845G>A, XM_024450756.2:c.710G>A, XM_024450756.1:c.710G>A, XM_017024651.2:c.668G>A, XM_017024651.1:c.668G>A, XM_024450757.2:c.536G>A, XM_024450757.1:c.536G>A, XM_047436090.1:c.746G>A, XM_047436091.1:c.668G>A, XM_047436089.1:c.986G>A, XM_024450755.1:c.929G>A, NP_001172.1:p.Gly242Asp, NP_550434.1:p.Gly242Asp, NP_550435.1:p.Gly218Asp, NP_001188281.1:p.Gly237Asp, NP_550436.1:p.Gly223Asp, XP_011522166.1:p.Gly249Asp, XP_011522164.2:p.Gly341Asp, XP_011522165.1:p.Gly230Asp, XP_006721589.1:p.Gly218Asp, XP_006721587.2:p.Gly179Asp, XP_024306524.1:p.Gly237Asp, XP_016880140.1:p.Gly223Asp, XP_024306525.1:p.Gly179Asp, XP_047292046.1:p.Gly249Asp, XP_047292047.1:p.Gly223Asp, XP_047292045.1:p.Gly329Asp, XP_024306523.1:p.Gly310Asp

                                        20.

                                        rs1454877062 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:7102170 (GRCh38)
                                          17:7005489 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:7102169:G:A
                                          Gene:
                                          ASGR2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.7102170G>A, NC_000017.10:g.7005489G>A, NG_029064.1:g.17642C>T, NM_001181.4:c.690C>T, NM_080912.3:c.690C>T, NM_080913.3:c.618C>T, NM_001201352.2:c.675C>T, NM_001201352.1:c.675C>T, NM_080914.2:c.633C>T, XM_011523864.4:c.711C>T, XM_011523864.3:c.711C>T, XM_011523864.2:c.711C>T, XM_011523864.1:c.711C>T, XM_011523862.4:c.987C>T, XM_011523862.3:c.987C>T, XM_011523862.2:c.987C>T, XM_011523862.1:c.711C>T, XM_011523863.4:c.654C>T, XM_011523863.3:c.654C>T, XM_011523863.2:c.654C>T, XM_011523863.1:c.654C>T, XM_006721526.3:c.618C>T, XM_006721526.2:c.618C>T, XM_006721526.1:c.618C>T, XM_006721524.3:c.501C>T, XM_006721524.2:c.501C>T, XM_006721524.1:c.810C>T, XM_024450756.2:c.675C>T, XM_024450756.1:c.675C>T, XM_017024651.2:c.633C>T, XM_017024651.1:c.633C>T, XM_024450757.2:c.501C>T, XM_024450757.1:c.501C>T, XM_047436090.1:c.711C>T, XM_047436091.1:c.633C>T, XM_047436089.1:c.951C>T, XM_024450755.1:c.894C>T

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