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Items: 1 to 20 of 505

1.

rs1489472344 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:53424731 (GRCh38)
    12:53818515 (GRCh37)
    Canonical SPDI:
    NC_000012.12:53424730:A:G
    Gene:
    AMHR2 (Varview)
    Functional Consequence:
    upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.53424731A>G, NC_000012.11:g.53818515A>G, NG_015981.1:g.5877A>G, NM_020547.3:c.255A>G, NM_020547.2:c.255A>G, NM_001164690.2:c.255A>G, NM_001164690.1:c.255A>G, NM_001164691.2:c.255A>G, NM_001164691.1:c.255A>G, XM_011538173.2:c.255A>G, XM_011538173.1:c.255A>G, XM_011538174.2:c.255A>G, XM_011538174.1:c.255A>G, XM_011538176.2:c.255A>G, XM_011538176.1:c.255A>G, XM_017019179.2:c.255A>G, XM_017019179.1:c.255A>G, XM_011538183.2:c.255A>G, XM_011538183.1:c.255A>G, XM_011538178.2:c.255A>G, XM_011538178.1:c.255A>G, XM_011538184.2:c.255A>G, XM_011538184.1:c.255A>G, XM_011538179.2:c.255A>G, XM_011538179.1:c.255A>G, XM_024448938.2:c.255A>G, XM_024448938.1:c.255A>G, XM_011538180.2:c.8A>G, XM_011538180.1:c.8A>G, XM_011538181.2:c.8A>G, XM_011538181.1:c.8A>G, XM_011538185.2:c.255A>G, XM_011538185.1:c.255A>G, XM_047428700.1:c.255A>G, XP_011536482.1:p.Gln3Arg, XP_011536483.1:p.Gln3Arg

    2.

    rs1487149258 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:53424324 (GRCh38)
      12:53818108 (GRCh37)
      Canonical SPDI:
      NC_000012.12:53424323:C:T
      Gene:
      AMHR2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.53424324C>T, NC_000012.11:g.53818108C>T, NG_015981.1:g.5470C>T, NM_020547.3:c.86C>T, NM_020547.2:c.86C>T, NM_001164690.2:c.86C>T, NM_001164690.1:c.86C>T, NM_001164691.2:c.86C>T, NM_001164691.1:c.86C>T, XM_011538173.2:c.86C>T, XM_011538173.1:c.86C>T, XM_011538174.2:c.86C>T, XM_011538174.1:c.86C>T, XM_011538176.2:c.86C>T, XM_011538176.1:c.86C>T, XM_017019179.2:c.86C>T, XM_017019179.1:c.86C>T, XM_011538183.2:c.86C>T, XM_011538183.1:c.86C>T, XM_011538178.2:c.86C>T, XM_011538178.1:c.86C>T, XM_011538184.2:c.86C>T, XM_011538184.1:c.86C>T, XM_011538179.2:c.86C>T, XM_011538179.1:c.86C>T, XM_024448938.2:c.86C>T, XM_024448938.1:c.86C>T, XM_011538185.2:c.86C>T, XM_011538185.1:c.86C>T, XM_047428700.1:c.86C>T, NP_065434.1:p.Ala29Val, NP_001158162.1:p.Ala29Val, NP_001158163.1:p.Ala29Val, XP_011536475.1:p.Ala29Val, XP_011536476.1:p.Ala29Val, XP_011536478.1:p.Ala29Val, XP_016874668.1:p.Ala29Val, XP_011536485.1:p.Ala29Val, XP_011536480.1:p.Ala29Val, XP_011536486.1:p.Ala29Val, XP_011536481.1:p.Ala29Val, XP_024304706.1:p.Ala29Val, XP_011536487.1:p.Ala29Val, XP_047284656.1:p.Ala29Val

      3.

      rs1484713604 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:53431289 (GRCh38)
        12:53825073 (GRCh37)
        Canonical SPDI:
        NC_000012.12:53431288:A:G
        Gene:
        AMHR2 (Varview)
        Functional Consequence:
        missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.53431289A>G, NC_000012.11:g.53825073A>G, NG_015981.1:g.12435A>G, NM_020547.3:c.1538A>G, NM_020547.2:c.1538A>G, NM_001164690.2:c.*97A>G, NM_001164690.1:c.*97A>G, NM_001164691.2:c.1253A>G, NM_001164691.1:c.1253A>G, XM_011538186.4:c.713A>G, XM_011538186.3:c.713A>G, XM_011538186.2:c.713A>G, XM_011538186.1:c.713A>G, XM_011538173.2:c.1598A>G, XM_011538173.1:c.1598A>G, XM_011538174.2:c.1595A>G, XM_011538174.1:c.1595A>G, XM_011538176.2:c.1541A>G, XM_011538176.1:c.1541A>G, XM_017019179.2:c.*105A>G, XM_011538183.2:c.*97A>G, XM_011538183.1:c.*97A>G, XM_011538178.2:c.1379A>G, XM_011538178.1:c.1379A>G, XM_011538184.2:c.*97A>G, XM_011538184.1:c.*97A>G, XM_011538179.2:c.1313A>G, XM_011538179.1:c.1313A>G, XM_024448938.2:c.1256A>G, XM_024448938.1:c.1256A>G, XM_011538180.2:c.1265A>G, XM_011538180.1:c.1265A>G, XM_011538181.2:c.1262A>G, XM_011538181.1:c.1262A>G, XM_011538185.2:c.968A>G, XM_011538185.1:c.968A>G, NP_065434.1:p.Glu513Gly, NP_001158163.1:p.Glu418Gly, XP_011536488.1:p.Glu238Gly, XP_011536475.1:p.Glu533Gly, XP_011536476.1:p.Glu532Gly, XP_011536478.1:p.Glu514Gly, XP_011536480.1:p.Glu460Gly, XP_011536481.1:p.Glu438Gly, XP_024304706.1:p.Glu419Gly, XP_011536482.1:p.Glu422Gly, XP_011536483.1:p.Glu421Gly, XP_011536487.1:p.Glu323Gly

        4.

        rs1484600833 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          12:53428937 (GRCh38)
          12:53822721 (GRCh37)
          Canonical SPDI:
          NC_000012.12:53428936:G:C
          Gene:
          AMHR2 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000006/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.53428937G>C, NC_000012.11:g.53822721G>C, NG_015981.1:g.10083G>C, NM_020547.3:c.894G>C, NM_020547.2:c.894G>C, NM_001164690.2:c.894G>C, NM_001164690.1:c.894G>C, NM_001164691.2:c.894G>C, NM_001164691.1:c.894G>C, XM_011538173.2:c.954G>C, XM_011538173.1:c.954G>C, XM_011538174.2:c.951G>C, XM_011538174.1:c.951G>C, XM_011538176.2:c.897G>C, XM_011538176.1:c.897G>C, XM_017019179.2:c.954G>C, XM_017019179.1:c.954G>C, XM_011538183.2:c.954G>C, XM_011538183.1:c.954G>C, XM_011538178.2:c.735G>C, XM_011538178.1:c.735G>C, XM_011538184.2:c.954G>C, XM_011538184.1:c.954G>C, XM_011538179.2:c.954G>C, XM_011538179.1:c.954G>C, XM_024448938.2:c.897G>C, XM_024448938.1:c.897G>C, XM_011538180.2:c.621G>C, XM_011538180.1:c.621G>C, XM_011538181.2:c.618G>C, XM_011538181.1:c.618G>C, NP_065434.1:p.Trp298Cys, NP_001158162.1:p.Trp298Cys, NP_001158163.1:p.Trp298Cys, XP_011536475.1:p.Trp318Cys, XP_011536476.1:p.Trp317Cys, XP_011536478.1:p.Trp299Cys, XP_016874668.1:p.Trp318Cys, XP_011536485.1:p.Trp318Cys, XP_011536480.1:p.Trp245Cys, XP_011536486.1:p.Trp318Cys, XP_011536481.1:p.Trp318Cys, XP_024304706.1:p.Trp299Cys, XP_011536482.1:p.Trp207Cys, XP_011536483.1:p.Trp206Cys

          5.

          rs1481073088 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:53424743 (GRCh38)
            12:53818527 (GRCh37)
            Canonical SPDI:
            NC_000012.12:53424742:C:A
            Gene:
            AMHR2 (Varview)
            Functional Consequence:
            upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.53424743C>A, NC_000012.11:g.53818527C>A, NG_015981.1:g.5889C>A, NM_020547.3:c.267C>A, NM_020547.2:c.267C>A, NM_001164690.2:c.267C>A, NM_001164690.1:c.267C>A, NM_001164691.2:c.267C>A, NM_001164691.1:c.267C>A, XM_011538173.2:c.267C>A, XM_011538173.1:c.267C>A, XM_011538174.2:c.267C>A, XM_011538174.1:c.267C>A, XM_011538176.2:c.267C>A, XM_011538176.1:c.267C>A, XM_017019179.2:c.267C>A, XM_017019179.1:c.267C>A, XM_011538183.2:c.267C>A, XM_011538183.1:c.267C>A, XM_011538178.2:c.267C>A, XM_011538178.1:c.267C>A, XM_011538184.2:c.267C>A, XM_011538184.1:c.267C>A, XM_011538179.2:c.267C>A, XM_011538179.1:c.267C>A, XM_024448938.2:c.267C>A, XM_024448938.1:c.267C>A, XM_011538180.2:c.20C>A, XM_011538180.1:c.20C>A, XM_011538181.2:c.20C>A, XM_011538181.1:c.20C>A, XM_011538185.2:c.267C>A, XM_011538185.1:c.267C>A, XM_047428700.1:c.267C>A, XP_011536482.1:p.Pro7His, XP_011536483.1:p.Pro7His

            6.

            rs1480670320 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:53424421 (GRCh38)
              12:53818205 (GRCh37)
              Canonical SPDI:
              NC_000012.12:53424420:C:T
              Gene:
              AMHR2 (Varview)
              Functional Consequence:
              coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1480285191 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                12:53424309 (GRCh38)
                12:53818093 (GRCh37)
                Canonical SPDI:
                NC_000012.12:53424308:G:C
                Gene:
                AMHR2 (Varview)
                Functional Consequence:
                coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_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_000012.12:g.53424309G>C, NC_000012.11:g.53818093G>C, NG_015981.1:g.5455G>C, NM_020547.3:c.71G>C, NM_020547.2:c.71G>C, NM_001164690.2:c.71G>C, NM_001164690.1:c.71G>C, NM_001164691.2:c.71G>C, NM_001164691.1:c.71G>C, XM_011538173.2:c.71G>C, XM_011538173.1:c.71G>C, XM_011538174.2:c.71G>C, XM_011538174.1:c.71G>C, XM_011538176.2:c.71G>C, XM_011538176.1:c.71G>C, XM_017019179.2:c.71G>C, XM_017019179.1:c.71G>C, XM_011538183.2:c.71G>C, XM_011538183.1:c.71G>C, XM_011538178.2:c.71G>C, XM_011538178.1:c.71G>C, XM_011538184.2:c.71G>C, XM_011538184.1:c.71G>C, XM_011538179.2:c.71G>C, XM_011538179.1:c.71G>C, XM_024448938.2:c.71G>C, XM_024448938.1:c.71G>C, XM_011538185.2:c.71G>C, XM_011538185.1:c.71G>C, XM_047428700.1:c.71G>C, NP_065434.1:p.Cys24Ser, NP_001158162.1:p.Cys24Ser, NP_001158163.1:p.Cys24Ser, XP_011536475.1:p.Cys24Ser, XP_011536476.1:p.Cys24Ser, XP_011536478.1:p.Cys24Ser, XP_016874668.1:p.Cys24Ser, XP_011536485.1:p.Cys24Ser, XP_011536480.1:p.Cys24Ser, XP_011536486.1:p.Cys24Ser, XP_011536481.1:p.Cys24Ser, XP_024304706.1:p.Cys24Ser, XP_011536487.1:p.Cys24Ser, XP_047284656.1:p.Cys24Ser

                8.

                rs1476489281 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:53431300 (GRCh38)
                  12:53825084 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:53431299:T:C
                  Gene:
                  AMHR2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.53431300T>C, NC_000012.11:g.53825084T>C, NG_015981.1:g.12446T>C, NM_020547.3:c.1549T>C, NM_020547.2:c.1549T>C, NM_001164690.2:c.*108T>C, NM_001164690.1:c.*108T>C, NM_001164691.2:c.1264T>C, NM_001164691.1:c.1264T>C, XM_011538186.4:c.724T>C, XM_011538186.3:c.724T>C, XM_011538186.2:c.724T>C, XM_011538186.1:c.724T>C, XM_011538173.2:c.1609T>C, XM_011538173.1:c.1609T>C, XM_011538174.2:c.1606T>C, XM_011538174.1:c.1606T>C, XM_011538176.2:c.1552T>C, XM_011538176.1:c.1552T>C, XM_017019179.2:c.*116T>C, XM_011538183.2:c.*108T>C, XM_011538183.1:c.*108T>C, XM_011538178.2:c.1390T>C, XM_011538178.1:c.1390T>C, XM_011538184.2:c.*108T>C, XM_011538184.1:c.*108T>C, XM_011538179.2:c.1324T>C, XM_011538179.1:c.1324T>C, XM_024448938.2:c.1267T>C, XM_024448938.1:c.1267T>C, XM_011538180.2:c.1276T>C, XM_011538180.1:c.1276T>C, XM_011538181.2:c.1273T>C, XM_011538181.1:c.1273T>C, XM_011538185.2:c.979T>C, XM_011538185.1:c.979T>C, NP_065434.1:p.Phe517Leu, NP_001158163.1:p.Phe422Leu, XP_011536488.1:p.Phe242Leu, XP_011536475.1:p.Phe537Leu, XP_011536476.1:p.Phe536Leu, XP_011536478.1:p.Phe518Leu, XP_011536480.1:p.Phe464Leu, XP_011536481.1:p.Phe442Leu, XP_024304706.1:p.Phe423Leu, XP_011536482.1:p.Phe426Leu, XP_011536483.1:p.Phe425Leu, XP_011536487.1:p.Phe327Leu

                  9.

                  rs1475242849 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:53429549 (GRCh38)
                    12:53823333 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:53429548:C:T
                    Gene:
                    AMHR2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,3_prime_UTR_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.53429549C>T, NC_000012.11:g.53823333C>T, NG_015981.1:g.10695C>T, NM_020547.3:c.1064C>T, NM_020547.2:c.1064C>T, NM_001164690.2:c.1064C>T, NM_001164690.1:c.1064C>T, NM_001164691.2:c.1064C>T, NM_001164691.1:c.1064C>T, XM_011538186.4:c.239C>T, XM_011538186.3:c.239C>T, XM_011538186.2:c.239C>T, XM_011538186.1:c.239C>T, XM_011538173.2:c.1124C>T, XM_011538173.1:c.1124C>T, XM_011538174.2:c.1121C>T, XM_011538174.1:c.1121C>T, XM_011538176.2:c.1067C>T, XM_011538176.1:c.1067C>T, XM_017019179.2:c.1124C>T, XM_017019179.1:c.1124C>T, XM_011538183.2:c.1124C>T, XM_011538183.1:c.1124C>T, XM_011538178.2:c.905C>T, XM_011538178.1:c.905C>T, XM_011538184.2:c.1124C>T, XM_011538184.1:c.1124C>T, XM_011538179.2:c.1124C>T, XM_011538179.1:c.1124C>T, XM_024448938.2:c.1067C>T, XM_024448938.1:c.1067C>T, XM_011538180.2:c.791C>T, XM_011538180.1:c.791C>T, XM_011538181.2:c.788C>T, XM_011538181.1:c.788C>T, XM_047428700.1:c.*61C>T, NP_065434.1:p.Ala355Val, NP_001158162.1:p.Ala355Val, NP_001158163.1:p.Ala355Val, XP_011536488.1:p.Ala80Val, XP_011536475.1:p.Ala375Val, XP_011536476.1:p.Ala374Val, XP_011536478.1:p.Ala356Val, XP_016874668.1:p.Ala375Val, XP_011536485.1:p.Ala375Val, XP_011536480.1:p.Ala302Val, XP_011536486.1:p.Ala375Val, XP_011536481.1:p.Ala375Val, XP_024304706.1:p.Ala356Val, XP_011536482.1:p.Ala264Val, XP_011536483.1:p.Ala263Val

                    10.

                    rs1474254620 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      12:53429459 (GRCh38)
                      12:53823243 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:53429458:A:G
                      Gene:
                      AMHR2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.53429459A>G, NC_000012.11:g.53823243A>G, NG_015981.1:g.10605A>G, NM_020547.3:c.974A>G, NM_020547.2:c.974A>G, NM_001164690.2:c.974A>G, NM_001164690.1:c.974A>G, NM_001164691.2:c.974A>G, NM_001164691.1:c.974A>G, XM_011538186.4:c.149A>G, XM_011538186.3:c.149A>G, XM_011538186.2:c.149A>G, XM_011538186.1:c.149A>G, XM_011538173.2:c.1034A>G, XM_011538173.1:c.1034A>G, XM_011538174.2:c.1031A>G, XM_011538174.1:c.1031A>G, XM_011538176.2:c.977A>G, XM_011538176.1:c.977A>G, XM_017019179.2:c.1034A>G, XM_017019179.1:c.1034A>G, XM_011538183.2:c.1034A>G, XM_011538183.1:c.1034A>G, XM_011538178.2:c.815A>G, XM_011538178.1:c.815A>G, XM_011538184.2:c.1034A>G, XM_011538184.1:c.1034A>G, XM_011538179.2:c.1034A>G, XM_011538179.1:c.1034A>G, XM_024448938.2:c.977A>G, XM_024448938.1:c.977A>G, XM_011538180.2:c.701A>G, XM_011538180.1:c.701A>G, XM_011538181.2:c.698A>G, XM_011538181.1:c.698A>G, XM_047428700.1:c.862A>G, NP_065434.1:p.Tyr325Cys, NP_001158162.1:p.Tyr325Cys, NP_001158163.1:p.Tyr325Cys, XP_011536488.1:p.Tyr50Cys, XP_011536475.1:p.Tyr345Cys, XP_011536476.1:p.Tyr344Cys, XP_011536478.1:p.Tyr326Cys, XP_016874668.1:p.Tyr345Cys, XP_011536485.1:p.Tyr345Cys, XP_011536480.1:p.Tyr272Cys, XP_011536486.1:p.Tyr345Cys, XP_011536481.1:p.Tyr345Cys, XP_024304706.1:p.Tyr326Cys, XP_011536482.1:p.Tyr234Cys, XP_011536483.1:p.Tyr233Cys, XP_047284656.1:p.Ile288Val

                      11.

                      rs1473472527 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        12:53424442 (GRCh38)
                        12:53818226 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:53424441:C:A
                        Gene:
                        AMHR2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1472218906 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AG>- [Show Flanks]
                          Chromosome:
                          12:53431309 (GRCh38)
                          12:53825093 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:53431304:AGAGAG:AGAG
                          Gene:
                          AMHR2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AGAG=0.000071/1 (ALFA)
                          -=0.000011/3 (TOPMED)
                          -=0.000029/4 (GnomAD)
                          HGVS:
                          NC_000012.12:g.53431305AG[2], NC_000012.11:g.53825089AG[2], NG_015981.1:g.12451AG[2], NM_020547.3:c.1558_1559del, NM_020547.2:c.1558_1559del, NM_001164690.2:c.*113AG[2], NM_001164690.1:c.*113AG[2], NM_001164691.2:c.1273_1274del, NM_001164691.1:c.1273_1274del, XM_011538186.4:c.733_734del, XM_011538186.3:c.733_734del, XM_011538186.2:c.733_734del, XM_011538186.1:c.733_734del, XM_011538173.2:c.1618_1619del, XM_011538173.1:c.1618_1619del, XM_011538174.2:c.1615_1616del, XM_011538174.1:c.1615_1616del, XM_011538176.2:c.1561_1562del, XM_011538176.1:c.1561_1562del, XM_017019179.2:c.*121AG[2], XM_011538183.2:c.*113AG[2], XM_011538183.1:c.*113AG[2], XM_011538178.2:c.1399_1400del, XM_011538178.1:c.1399_1400del, XM_011538184.2:c.*113AG[2], XM_011538184.1:c.*113AG[2], XM_011538179.2:c.1333_1334del, XM_011538179.1:c.1333_1334del, XM_024448938.2:c.1276_1277del, XM_024448938.1:c.1276_1277del, XM_011538180.2:c.1285_1286del, XM_011538180.1:c.1285_1286del, XM_011538181.2:c.1282_1283del, XM_011538181.1:c.1282_1283del, XM_011538185.2:c.988_989del, XM_011538185.1:c.988_989del, NP_065434.1:p.Ser520fs, NP_001158163.1:p.Ser425fs, XP_011536488.1:p.Ser245fs, XP_011536475.1:p.Ser540fs, XP_011536476.1:p.Ser539fs, XP_011536478.1:p.Ser521fs, XP_011536480.1:p.Ser467fs, XP_011536481.1:p.Ser445fs, XP_024304706.1:p.Ser426fs, XP_011536482.1:p.Ser429fs, XP_011536483.1:p.Ser428fs, XP_011536487.1:p.Ser330fs

                          13.

                          rs1455277195 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:53428949 (GRCh38)
                            12:53822733 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:53428948:G:A
                            Gene:
                            AMHR2 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,coding_sequence_variant
                            HGVS:

                            14.

                            rs1453602766 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:53424458 (GRCh38)
                              12:53818242 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:53424457:G:A
                              Gene:
                              AMHR2 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000094/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.53424458G>A, NC_000012.11:g.53818242G>A, NG_015981.1:g.5604G>A, NM_020547.3:c.220G>A, NM_020547.2:c.220G>A, NM_001164690.2:c.220G>A, NM_001164690.1:c.220G>A, NM_001164691.2:c.220G>A, NM_001164691.1:c.220G>A, XM_011538173.2:c.220G>A, XM_011538173.1:c.220G>A, XM_011538174.2:c.220G>A, XM_011538174.1:c.220G>A, XM_011538176.2:c.220G>A, XM_011538176.1:c.220G>A, XM_017019179.2:c.220G>A, XM_017019179.1:c.220G>A, XM_011538183.2:c.220G>A, XM_011538183.1:c.220G>A, XM_011538178.2:c.220G>A, XM_011538178.1:c.220G>A, XM_011538184.2:c.220G>A, XM_011538184.1:c.220G>A, XM_011538179.2:c.220G>A, XM_011538179.1:c.220G>A, XM_024448938.2:c.220G>A, XM_024448938.1:c.220G>A, XM_011538185.2:c.220G>A, XM_011538185.1:c.220G>A, XM_047428700.1:c.220G>A, NP_065434.1:p.Val74Met, NP_001158162.1:p.Val74Met, NP_001158163.1:p.Val74Met, XP_011536475.1:p.Val74Met, XP_011536476.1:p.Val74Met, XP_011536478.1:p.Val74Met, XP_016874668.1:p.Val74Met, XP_011536485.1:p.Val74Met, XP_011536480.1:p.Val74Met, XP_011536486.1:p.Val74Met, XP_011536481.1:p.Val74Met, XP_024304706.1:p.Val74Met, XP_011536487.1:p.Val74Met, XP_047284656.1:p.Val74Met

                              15.

                              rs1453102753 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                12:53428964 (GRCh38)
                                12:53822748 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:53428963:C:G,NC_000012.12:53428963:C:T
                                Gene:
                                AMHR2 (Varview)
                                Functional Consequence:
                                intron_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                T=0.000013/2 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.53428964C>G, NC_000012.12:g.53428964C>T, NC_000012.11:g.53822748C>G, NC_000012.11:g.53822748C>T, NG_015981.1:g.10110C>G, NG_015981.1:g.10110C>T, NM_020547.3:c.921C>G, NM_020547.3:c.921C>T, NM_020547.2:c.921C>G, NM_020547.2:c.921C>T, NM_001164690.2:c.921C>G, NM_001164690.2:c.921C>T, NM_001164690.1:c.921C>G, NM_001164690.1:c.921C>T, NM_001164691.2:c.921C>G, NM_001164691.2:c.921C>T, NM_001164691.1:c.921C>G, NM_001164691.1:c.921C>T, XM_011538173.2:c.981C>G, XM_011538173.2:c.981C>T, XM_011538173.1:c.981C>G, XM_011538173.1:c.981C>T, XM_011538174.2:c.978C>G, XM_011538174.2:c.978C>T, XM_011538174.1:c.978C>G, XM_011538174.1:c.978C>T, XM_011538176.2:c.924C>G, XM_011538176.2:c.924C>T, XM_011538176.1:c.924C>G, XM_011538176.1:c.924C>T, XM_017019179.2:c.981C>G, XM_017019179.2:c.981C>T, XM_017019179.1:c.981C>G, XM_017019179.1:c.981C>T, XM_011538183.2:c.981C>G, XM_011538183.2:c.981C>T, XM_011538183.1:c.981C>G, XM_011538183.1:c.981C>T, XM_011538178.2:c.762C>G, XM_011538178.2:c.762C>T, XM_011538178.1:c.762C>G, XM_011538178.1:c.762C>T, XM_011538184.2:c.981C>G, XM_011538184.2:c.981C>T, XM_011538184.1:c.981C>G, XM_011538184.1:c.981C>T, XM_011538179.2:c.981C>G, XM_011538179.2:c.981C>T, XM_011538179.1:c.981C>G, XM_011538179.1:c.981C>T, XM_024448938.2:c.924C>G, XM_024448938.2:c.924C>T, XM_024448938.1:c.924C>G, XM_024448938.1:c.924C>T, XM_011538180.2:c.648C>G, XM_011538180.2:c.648C>T, XM_011538180.1:c.648C>G, XM_011538180.1:c.648C>T, XM_011538181.2:c.645C>G, XM_011538181.2:c.645C>T, XM_011538181.1:c.645C>G, XM_011538181.1:c.645C>T

                                16.

                                rs1452234914 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  12:53425733 (GRCh38)
                                  12:53819517 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:53425732:G:A,NC_000012.12:53425732:G:T
                                  Gene:
                                  AMHR2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.53425733G>A, NC_000012.12:g.53425733G>T, NC_000012.11:g.53819517G>A, NC_000012.11:g.53819517G>T, NG_015981.1:g.6879G>A, NG_015981.1:g.6879G>T, NM_020547.3:c.666G>A, NM_020547.3:c.666G>T, NM_020547.2:c.666G>A, NM_020547.2:c.666G>T, NM_001164690.2:c.666G>A, NM_001164690.2:c.666G>T, NM_001164690.1:c.666G>A, NM_001164690.1:c.666G>T, NM_001164691.2:c.666G>A, NM_001164691.2:c.666G>T, NM_001164691.1:c.666G>A, NM_001164691.1:c.666G>T, XM_011538173.2:c.669G>A, XM_011538173.2:c.669G>T, XM_011538173.1:c.669G>A, XM_011538173.1:c.669G>T, XM_011538174.2:c.666G>A, XM_011538174.2:c.666G>T, XM_011538174.1:c.666G>A, XM_011538174.1:c.666G>T, XM_011538176.2:c.669G>A, XM_011538176.2:c.669G>T, XM_011538176.1:c.669G>A, XM_011538176.1:c.669G>T, XM_017019179.2:c.669G>A, XM_017019179.2:c.669G>T, XM_017019179.1:c.669G>A, XM_017019179.1:c.669G>T, XM_011538183.2:c.669G>A, XM_011538183.2:c.669G>T, XM_011538183.1:c.669G>A, XM_011538183.1:c.669G>T, XM_011538184.2:c.669G>A, XM_011538184.2:c.669G>T, XM_011538184.1:c.669G>A, XM_011538184.1:c.669G>T, XM_011538179.2:c.669G>A, XM_011538179.2:c.669G>T, XM_011538179.1:c.669G>A, XM_011538179.1:c.669G>T, XM_024448938.2:c.669G>A, XM_024448938.2:c.669G>T, XM_024448938.1:c.669G>A, XM_024448938.1:c.669G>T, XM_011538180.2:c.336G>A, XM_011538180.2:c.336G>T, XM_011538180.1:c.336G>A, XM_011538180.1:c.336G>T, XM_011538181.2:c.333G>A, XM_011538181.2:c.333G>T, XM_011538181.1:c.333G>A, XM_011538181.1:c.333G>T, XM_011538185.2:c.669G>A, XM_011538185.2:c.669G>T, XM_011538185.1:c.669G>A, XM_011538185.1:c.669G>T, XM_047428700.1:c.669G>A, XM_047428700.1:c.669G>T

                                  17.

                                  rs1447886200 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    12:53425540 (GRCh38)
                                    12:53819324 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:53425539:G:C
                                    Gene:
                                    AMHR2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.53425540G>C, NC_000012.11:g.53819324G>C, NG_015981.1:g.6686G>C, NM_020547.3:c.588G>C, NM_020547.2:c.588G>C, NM_001164690.2:c.588G>C, NM_001164690.1:c.588G>C, NM_001164691.2:c.588G>C, NM_001164691.1:c.588G>C, XM_011538173.2:c.588G>C, XM_011538173.1:c.588G>C, XM_011538174.2:c.588G>C, XM_011538174.1:c.588G>C, XM_011538176.2:c.588G>C, XM_011538176.1:c.588G>C, XM_017019179.2:c.588G>C, XM_017019179.1:c.588G>C, XM_011538183.2:c.588G>C, XM_011538183.1:c.588G>C, XM_011538184.2:c.588G>C, XM_011538184.1:c.588G>C, XM_011538179.2:c.588G>C, XM_011538179.1:c.588G>C, XM_024448938.2:c.588G>C, XM_024448938.1:c.588G>C, XM_011538185.2:c.588G>C, XM_011538185.1:c.588G>C, XM_047428700.1:c.588G>C, NP_065434.1:p.Glu196Asp, NP_001158162.1:p.Glu196Asp, NP_001158163.1:p.Glu196Asp, XP_011536475.1:p.Glu196Asp, XP_011536476.1:p.Glu196Asp, XP_011536478.1:p.Glu196Asp, XP_016874668.1:p.Glu196Asp, XP_011536485.1:p.Glu196Asp, XP_011536486.1:p.Glu196Asp, XP_011536481.1:p.Glu196Asp, XP_024304706.1:p.Glu196Asp, XP_011536487.1:p.Glu196Asp, XP_047284656.1:p.Glu196Asp

                                    18.

                                    rs1442050542 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:53425717 (GRCh38)
                                      12:53819501 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:53425716:T:C
                                      Gene:
                                      AMHR2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      HGVS:
                                      NC_000012.12:g.53425717T>C, NC_000012.11:g.53819501T>C, NG_015981.1:g.6863T>C, NM_020547.3:c.650T>C, NM_020547.2:c.650T>C, NM_001164690.2:c.650T>C, NM_001164690.1:c.650T>C, NM_001164691.2:c.650T>C, NM_001164691.1:c.650T>C, XM_011538173.2:c.653T>C, XM_011538173.1:c.653T>C, XM_011538174.2:c.650T>C, XM_011538174.1:c.650T>C, XM_011538176.2:c.653T>C, XM_011538176.1:c.653T>C, XM_017019179.2:c.653T>C, XM_017019179.1:c.653T>C, XM_011538183.2:c.653T>C, XM_011538183.1:c.653T>C, XM_011538184.2:c.653T>C, XM_011538184.1:c.653T>C, XM_011538179.2:c.653T>C, XM_011538179.1:c.653T>C, XM_024448938.2:c.653T>C, XM_024448938.1:c.653T>C, XM_011538180.2:c.320T>C, XM_011538180.1:c.320T>C, XM_011538181.2:c.317T>C, XM_011538181.1:c.317T>C, XM_011538185.2:c.653T>C, XM_011538185.1:c.653T>C, XM_047428700.1:c.653T>C, NP_065434.1:p.Val217Ala, NP_001158162.1:p.Val217Ala, NP_001158163.1:p.Val217Ala, XP_011536475.1:p.Val218Ala, XP_011536476.1:p.Val217Ala, XP_011536478.1:p.Val218Ala, XP_016874668.1:p.Val218Ala, XP_011536485.1:p.Val218Ala, XP_011536486.1:p.Val218Ala, XP_011536481.1:p.Val218Ala, XP_024304706.1:p.Val218Ala, XP_011536482.1:p.Val107Ala, XP_011536483.1:p.Val106Ala, XP_011536487.1:p.Val218Ala, XP_047284656.1:p.Val218Ala

                                      19.

                                      rs1441301180 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:53429489 (GRCh38)
                                        12:53823273 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:53429488:G:A
                                        Gene:
                                        AMHR2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,3_prime_UTR_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.53429489G>A, NC_000012.11:g.53823273G>A, NG_015981.1:g.10635G>A, NM_020547.3:c.1004G>A, NM_020547.2:c.1004G>A, NM_001164690.2:c.1004G>A, NM_001164690.1:c.1004G>A, NM_001164691.2:c.1004G>A, NM_001164691.1:c.1004G>A, XM_011538186.4:c.179G>A, XM_011538186.3:c.179G>A, XM_011538186.2:c.179G>A, XM_011538186.1:c.179G>A, XM_011538173.2:c.1064G>A, XM_011538173.1:c.1064G>A, XM_011538174.2:c.1061G>A, XM_011538174.1:c.1061G>A, XM_011538176.2:c.1007G>A, XM_011538176.1:c.1007G>A, XM_017019179.2:c.1064G>A, XM_017019179.1:c.1064G>A, XM_011538183.2:c.1064G>A, XM_011538183.1:c.1064G>A, XM_011538178.2:c.845G>A, XM_011538178.1:c.845G>A, XM_011538184.2:c.1064G>A, XM_011538184.1:c.1064G>A, XM_011538179.2:c.1064G>A, XM_011538179.1:c.1064G>A, XM_024448938.2:c.1007G>A, XM_024448938.1:c.1007G>A, XM_011538180.2:c.731G>A, XM_011538180.1:c.731G>A, XM_011538181.2:c.728G>A, XM_011538181.1:c.728G>A, XM_047428700.1:c.*1G>A, NP_065434.1:p.Ser335Asn, NP_001158162.1:p.Ser335Asn, NP_001158163.1:p.Ser335Asn, XP_011536488.1:p.Ser60Asn, XP_011536475.1:p.Ser355Asn, XP_011536476.1:p.Ser354Asn, XP_011536478.1:p.Ser336Asn, XP_016874668.1:p.Ser355Asn, XP_011536485.1:p.Ser355Asn, XP_011536480.1:p.Ser282Asn, XP_011536486.1:p.Ser355Asn, XP_011536481.1:p.Ser355Asn, XP_024304706.1:p.Ser336Asn, XP_011536482.1:p.Ser244Asn, XP_011536483.1:p.Ser243Asn

                                        20.

                                        rs1441183832 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          12:53425492 (GRCh38)
                                          12:53819276 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:53425491:G:C
                                          Gene:
                                          AMHR2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000012.12:g.53425492G>C, NC_000012.11:g.53819276G>C, NG_015981.1:g.6638G>C, NM_020547.3:c.540G>C, NM_020547.2:c.540G>C, NM_001164690.2:c.540G>C, NM_001164690.1:c.540G>C, NM_001164691.2:c.540G>C, NM_001164691.1:c.540G>C, XM_011538173.2:c.540G>C, XM_011538173.1:c.540G>C, XM_011538174.2:c.540G>C, XM_011538174.1:c.540G>C, XM_011538176.2:c.540G>C, XM_011538176.1:c.540G>C, XM_017019179.2:c.540G>C, XM_017019179.1:c.540G>C, XM_011538183.2:c.540G>C, XM_011538183.1:c.540G>C, XM_011538184.2:c.540G>C, XM_011538184.1:c.540G>C, XM_011538179.2:c.540G>C, XM_011538179.1:c.540G>C, XM_024448938.2:c.540G>C, XM_024448938.1:c.540G>C, XM_011538185.2:c.540G>C, XM_011538185.1:c.540G>C, XM_047428700.1:c.540G>C, NP_065434.1:p.Glu180Asp, NP_001158162.1:p.Glu180Asp, NP_001158163.1:p.Glu180Asp, XP_011536475.1:p.Glu180Asp, XP_011536476.1:p.Glu180Asp, XP_011536478.1:p.Glu180Asp, XP_016874668.1:p.Glu180Asp, XP_011536485.1:p.Glu180Asp, XP_011536486.1:p.Glu180Asp, XP_011536481.1:p.Glu180Asp, XP_024304706.1:p.Glu180Asp, XP_011536487.1:p.Glu180Asp, XP_047284656.1:p.Glu180Asp

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