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Items: 1 to 20 of 222

1.

rs1491215512 has merged into rs786200876 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    16:30985703 (GRCh38)
    16:30997024 (GRCh37)
    Canonical SPDI:
    NC_000016.10:30985702:AG:
    Gene:
    HSD3B7 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Clinical significance:
    pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000142/2 (ALFA)
    -=0.000014/2 (GnomAD)
    -=0.000021/2 (ExAC)
    -=0.000037/9 (GnomAD_exomes)
    -=0.000053/14 (TOPMED)
    -=0.00008/1 (GoESP)
    HGVS:
    NC_000016.10:g.30985703_30985704del, NC_000016.9:g.30997024_30997025del, NG_052948.1:g.33410_33411del, NG_012346.1:g.5506_5507del, NM_025193.4:c.45_46del, NM_025193.3:c.45_46del, NM_001142777.2:c.45_46del, NM_001142777.1:c.45_46del, NM_001142778.2:c.45_46del, NM_001142778.1:c.45_46del, XM_005255601.4:c.45_46del, XM_005255601.3:c.45_46del, XM_005255601.2:c.348_349del, XM_005255601.1:c.348_349del, XM_011545960.3:c.45_46del, XM_011545960.2:c.45_46del, XM_011545960.1:c.45_46del, XM_011545962.3:c.45_46del, XM_011545962.2:c.45_46del, XM_011545962.1:c.45_46del, XM_011545961.2:c.45_46del, XM_011545961.1:c.45_46del, XM_017023732.2:c.45_46del, XM_017023732.1:c.45_46del, XM_047434716.1:c.45_46del, NP_079469.2:p.Gly17fs, NP_001136249.1:p.Gly17fs, NP_001136250.1:p.Gly17fs, XP_005255658.2:p.Gly17fs, XP_011544262.1:p.Gly17fs, XP_011544264.1:p.Gly17fs, XP_011544263.1:p.Gly17fs, XP_016879221.1:p.Gly17fs, XP_047290672.1:p.Gly17fs

    2.

    rs1487063012 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      16:30985711 (GRCh38)
      16:30997032 (GRCh37)
      Canonical SPDI:
      NC_000016.10:30985710:G:A,NC_000016.10:30985710:G:T
      Gene:
      HSD3B7 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_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_000016.10:g.30985711G>A, NC_000016.10:g.30985711G>T, NC_000016.9:g.30997032G>A, NC_000016.9:g.30997032G>T, NG_052948.1:g.33418G>A, NG_052948.1:g.33418G>T, NG_012346.1:g.5514G>A, NG_012346.1:g.5514G>T, NM_025193.4:c.53G>A, NM_025193.4:c.53G>T, NM_025193.3:c.53G>A, NM_025193.3:c.53G>T, NM_001142777.2:c.53G>A, NM_001142777.2:c.53G>T, NM_001142777.1:c.53G>A, NM_001142777.1:c.53G>T, NM_001142778.2:c.53G>A, NM_001142778.2:c.53G>T, NM_001142778.1:c.53G>A, NM_001142778.1:c.53G>T, XM_005255601.4:c.53G>A, XM_005255601.4:c.53G>T, XM_005255601.3:c.53G>A, XM_005255601.3:c.53G>T, XM_005255601.2:c.356G>A, XM_005255601.2:c.356G>T, XM_005255601.1:c.356G>A, XM_005255601.1:c.356G>T, XM_011545960.3:c.53G>A, XM_011545960.3:c.53G>T, XM_011545960.2:c.53G>A, XM_011545960.2:c.53G>T, XM_011545960.1:c.53G>A, XM_011545960.1:c.53G>T, XM_011545962.3:c.53G>A, XM_011545962.3:c.53G>T, XM_011545962.2:c.53G>A, XM_011545962.2:c.53G>T, XM_011545962.1:c.53G>A, XM_011545962.1:c.53G>T, XM_011545961.2:c.53G>A, XM_011545961.2:c.53G>T, XM_011545961.1:c.53G>A, XM_011545961.1:c.53G>T, XM_017023732.2:c.53G>A, XM_017023732.2:c.53G>T, XM_017023732.1:c.53G>A, XM_017023732.1:c.53G>T, XM_047434716.1:c.53G>A, XM_047434716.1:c.53G>T, NP_079469.2:p.Cys18Tyr, NP_079469.2:p.Cys18Phe, NP_001136249.1:p.Cys18Tyr, NP_001136249.1:p.Cys18Phe, NP_001136250.1:p.Cys18Tyr, NP_001136250.1:p.Cys18Phe, XP_005255658.2:p.Cys18Tyr, XP_005255658.2:p.Cys18Phe, XP_011544262.1:p.Cys18Tyr, XP_011544262.1:p.Cys18Phe, XP_011544264.1:p.Cys18Tyr, XP_011544264.1:p.Cys18Phe, XP_011544263.1:p.Cys18Tyr, XP_011544263.1:p.Cys18Phe, XP_016879221.1:p.Cys18Tyr, XP_016879221.1:p.Cys18Phe, XP_047290672.1:p.Cys18Tyr, XP_047290672.1:p.Cys18Phe

      3.

      rs1481745765 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        16:30986091 (GRCh38)
        16:30997412 (GRCh37)
        Canonical SPDI:
        NC_000016.10:30986090:C:A,NC_000016.10:30986090:C:G
        Gene:
        HSD3B7 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000016.10:g.30986091C>A, NC_000016.10:g.30986091C>G, NC_000016.9:g.30997412C>A, NC_000016.9:g.30997412C>G, NG_052948.1:g.33798C>A, NG_052948.1:g.33798C>G, NG_012346.1:g.5894C>A, NG_012346.1:g.5894C>G, NM_025193.4:c.209C>A, NM_025193.4:c.209C>G, NM_025193.3:c.209C>A, NM_025193.3:c.209C>G, NM_001142777.2:c.209C>A, NM_001142777.2:c.209C>G, NM_001142777.1:c.209C>A, NM_001142777.1:c.209C>G, NM_001142778.2:c.209C>A, NM_001142778.2:c.209C>G, NM_001142778.1:c.209C>A, NM_001142778.1:c.209C>G, XM_005255601.4:c.209C>A, XM_005255601.4:c.209C>G, XM_005255601.3:c.209C>A, XM_005255601.3:c.209C>G, XM_005255601.2:c.512C>A, XM_005255601.2:c.512C>G, XM_005255601.1:c.512C>A, XM_005255601.1:c.512C>G, XM_011545960.3:c.209C>A, XM_011545960.3:c.209C>G, XM_011545960.2:c.209C>A, XM_011545960.2:c.209C>G, XM_011545960.1:c.209C>A, XM_011545960.1:c.209C>G, XM_011545962.3:c.209C>A, XM_011545962.3:c.209C>G, XM_011545962.2:c.209C>A, XM_011545962.2:c.209C>G, XM_011545962.1:c.209C>A, XM_011545962.1:c.209C>G, XM_011545961.2:c.209C>A, XM_011545961.2:c.209C>G, XM_011545961.1:c.209C>A, XM_011545961.1:c.209C>G, XM_017023732.2:c.209C>A, XM_017023732.2:c.209C>G, XM_017023732.1:c.209C>A, XM_017023732.1:c.209C>G, XM_047434716.1:c.209C>A, XM_047434716.1:c.209C>G, NP_079469.2:p.Ala70Asp, NP_079469.2:p.Ala70Gly, NP_001136249.1:p.Ala70Asp, NP_001136249.1:p.Ala70Gly, NP_001136250.1:p.Ala70Asp, NP_001136250.1:p.Ala70Gly, XP_005255658.2:p.Ala70Asp, XP_005255658.2:p.Ala70Gly, XP_011544262.1:p.Ala70Asp, XP_011544262.1:p.Ala70Gly, XP_011544264.1:p.Ala70Asp, XP_011544264.1:p.Ala70Gly, XP_011544263.1:p.Ala70Asp, XP_011544263.1:p.Ala70Gly, XP_016879221.1:p.Ala70Asp, XP_016879221.1:p.Ala70Gly, XP_047290672.1:p.Ala70Asp, XP_047290672.1:p.Ala70Gly

        4.

        rs1478238919 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          16:30987770 (GRCh38)
          16:30999091 (GRCh37)
          Canonical SPDI:
          NC_000016.10:30987769:A:C,NC_000016.10:30987769:A:G
          Gene:
          HSD3B7 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000066/1 (ALFA)
          G=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          NC_000016.10:g.30987770A>C, NC_000016.10:g.30987770A>G, NC_000016.9:g.30999091A>C, NC_000016.9:g.30999091A>G, NG_041829.1:g.27739T>G, NG_041829.1:g.27739T>C, NG_012346.1:g.7573A>C, NG_012346.1:g.7573A>G, NM_025193.4:c.697A>C, NM_025193.4:c.697A>G, NM_025193.3:c.697A>C, NM_025193.3:c.697A>G, NM_001142777.2:c.534A>C, NM_001142777.2:c.534A>G, NM_001142777.1:c.534A>C, NM_001142777.1:c.534A>G, NM_001142778.2:c.534A>C, NM_001142778.2:c.534A>G, NM_001142778.1:c.534A>C, NM_001142778.1:c.534A>G, XM_005255601.4:c.697A>C, XM_005255601.4:c.697A>G, XM_005255601.3:c.697A>C, XM_005255601.3:c.697A>G, XM_005255601.2:c.1000A>C, XM_005255601.2:c.1000A>G, XM_005255601.1:c.1000A>C, XM_005255601.1:c.1000A>G, XM_011545960.3:c.697A>C, XM_011545960.3:c.697A>G, XM_011545960.2:c.697A>C, XM_011545960.2:c.697A>G, XM_011545960.1:c.697A>C, XM_011545960.1:c.697A>G, XM_011545962.3:c.534A>C, XM_011545962.3:c.534A>G, XM_011545962.2:c.534A>C, XM_011545962.2:c.534A>G, XM_011545962.1:c.534A>C, XM_011545962.1:c.534A>G, XM_011545961.2:c.697A>C, XM_011545961.2:c.697A>G, XM_011545961.1:c.697A>C, XM_011545961.1:c.697A>G, XM_017023732.2:c.534A>C, XM_017023732.2:c.534A>G, XM_017023732.1:c.534A>C, XM_017023732.1:c.534A>G, XM_047434716.1:c.697A>C, XM_047434716.1:c.697A>G, NP_079469.2:p.Asn233His, NP_079469.2:p.Asn233Asp, XP_005255658.2:p.Asn233His, XP_005255658.2:p.Asn233Asp, XP_011544262.1:p.Asn233His, XP_011544262.1:p.Asn233Asp, XP_011544263.1:p.Asn233His, XP_011544263.1:p.Asn233Asp, XP_047290672.1:p.Asn233His, XP_047290672.1:p.Asn233Asp

          5.

          rs1477638829 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:30986665 (GRCh38)
            16:30997986 (GRCh37)
            Canonical SPDI:
            NC_000016.10:30986664:C:T
            Gene:
            HSD3B7 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_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:

            6.

            rs1470687686 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:30986156 (GRCh38)
              16:30997477 (GRCh37)
              Canonical SPDI:
              NC_000016.10:30986155:G:A
              Gene:
              HSD3B7 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000031/1 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000546/1 (Korea1K)
              HGVS:
              NC_000016.10:g.30986156G>A, NC_000016.9:g.30997477G>A, NG_052948.1:g.33863G>A, NG_012346.1:g.5959G>A, NM_025193.4:c.274G>A, NM_025193.3:c.274G>A, NM_001142777.2:c.274G>A, NM_001142777.1:c.274G>A, NM_001142778.2:c.274G>A, NM_001142778.1:c.274G>A, XM_005255601.4:c.274G>A, XM_005255601.3:c.274G>A, XM_005255601.2:c.577G>A, XM_005255601.1:c.577G>A, XM_011545960.3:c.274G>A, XM_011545960.2:c.274G>A, XM_011545960.1:c.274G>A, XM_011545962.3:c.274G>A, XM_011545962.2:c.274G>A, XM_011545962.1:c.274G>A, XM_011545961.2:c.274G>A, XM_011545961.1:c.274G>A, XM_017023732.2:c.274G>A, XM_017023732.1:c.274G>A, XM_047434716.1:c.274G>A, NP_079469.2:p.Val92Met, NP_001136249.1:p.Val92Met, NP_001136250.1:p.Val92Met, XP_005255658.2:p.Val92Met, XP_011544262.1:p.Val92Met, XP_011544264.1:p.Val92Met, XP_011544263.1:p.Val92Met, XP_016879221.1:p.Val92Met, XP_047290672.1:p.Val92Met

              7.

              rs1468833759 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:30986438 (GRCh38)
                16:30997759 (GRCh37)
                Canonical SPDI:
                NC_000016.10:30986437:T:C
                Gene:
                HSD3B7 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000016.10:g.30986438T>C, NC_000016.9:g.30997759T>C, NG_052948.1:g.34145T>C, NG_012346.1:g.6241T>C, NM_025193.4:c.338T>C, NM_025193.3:c.338T>C, NM_001142777.2:c.338T>C, NM_001142777.1:c.338T>C, NM_001142778.2:c.338T>C, NM_001142778.1:c.338T>C, XM_005255601.4:c.338T>C, XM_005255601.3:c.338T>C, XM_005255601.2:c.641T>C, XM_005255601.1:c.641T>C, XM_011545960.3:c.338T>C, XM_011545960.2:c.338T>C, XM_011545960.1:c.338T>C, XM_011545962.3:c.338T>C, XM_011545962.2:c.338T>C, XM_011545962.1:c.338T>C, XM_011545961.2:c.338T>C, XM_011545961.1:c.338T>C, XM_017023732.2:c.338T>C, XM_017023732.1:c.338T>C, XM_047434716.1:c.338T>C, NP_079469.2:p.Ile113Thr, NP_001136249.1:p.Ile113Thr, NP_001136250.1:p.Ile113Thr, XP_005255658.2:p.Ile113Thr, XP_011544262.1:p.Ile113Thr, XP_011544264.1:p.Ile113Thr, XP_011544263.1:p.Ile113Thr, XP_016879221.1:p.Ile113Thr, XP_047290672.1:p.Ile113Thr

                8.

                rs1458585775 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:30986471 (GRCh38)
                  16:30997792 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:30986470:T:C
                  Gene:
                  HSD3B7 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000047/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.30986471T>C, NC_000016.9:g.30997792T>C, NG_052948.1:g.34178T>C, NG_012346.1:g.6274T>C, NM_025193.4:c.371T>C, NM_025193.3:c.371T>C, NM_001142777.2:c.371T>C, NM_001142777.1:c.371T>C, NM_001142778.2:c.371T>C, NM_001142778.1:c.371T>C, XM_005255601.4:c.371T>C, XM_005255601.3:c.371T>C, XM_005255601.2:c.674T>C, XM_005255601.1:c.674T>C, XM_011545960.3:c.371T>C, XM_011545960.2:c.371T>C, XM_011545960.1:c.371T>C, XM_011545962.3:c.371T>C, XM_011545962.2:c.371T>C, XM_011545962.1:c.371T>C, XM_011545961.2:c.371T>C, XM_011545961.1:c.371T>C, XM_017023732.2:c.371T>C, XM_017023732.1:c.371T>C, XM_047434716.1:c.371T>C, NP_079469.2:p.Leu124Pro, NP_001136249.1:p.Leu124Pro, NP_001136250.1:p.Leu124Pro, XP_005255658.2:p.Leu124Pro, XP_011544262.1:p.Leu124Pro, XP_011544264.1:p.Leu124Pro, XP_011544263.1:p.Leu124Pro, XP_016879221.1:p.Leu124Pro, XP_047290672.1:p.Leu124Pro

                  9.

                  rs1455967259 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:30985777 (GRCh38)
                    16:30997098 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:30985776:G:A
                    Gene:
                    HSD3B7 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000142/2 (ALFA)
                    A=0.000023/6 (TOPMED)
                    A=0.000031/7 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.30985777G>A, NC_000016.9:g.30997098G>A, NG_052948.1:g.33484G>A, NG_012346.1:g.5580G>A, NM_025193.4:c.119G>A, NM_025193.3:c.119G>A, NM_001142777.2:c.119G>A, NM_001142777.1:c.119G>A, NM_001142778.2:c.119G>A, NM_001142778.1:c.119G>A, XM_005255601.4:c.119G>A, XM_005255601.3:c.119G>A, XM_005255601.2:c.422G>A, XM_005255601.1:c.422G>A, XM_011545960.3:c.119G>A, XM_011545960.2:c.119G>A, XM_011545960.1:c.119G>A, XM_011545962.3:c.119G>A, XM_011545962.2:c.119G>A, XM_011545962.1:c.119G>A, XM_011545961.2:c.119G>A, XM_011545961.1:c.119G>A, XM_017023732.2:c.119G>A, XM_017023732.1:c.119G>A, XM_047434716.1:c.119G>A, NP_079469.2:p.Arg40Gln, NP_001136249.1:p.Arg40Gln, NP_001136250.1:p.Arg40Gln, XP_005255658.2:p.Arg40Gln, XP_011544262.1:p.Arg40Gln, XP_011544264.1:p.Arg40Gln, XP_011544263.1:p.Arg40Gln, XP_016879221.1:p.Arg40Gln, XP_047290672.1:p.Arg40Gln

                    10.

                    rs1445171510 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:30986118 (GRCh38)
                      16:30997439 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:30986117:G:A
                      Gene:
                      HSD3B7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000016.10:g.30986118G>A, NC_000016.9:g.30997439G>A, NG_052948.1:g.33825G>A, NG_012346.1:g.5921G>A, NM_025193.4:c.236G>A, NM_025193.3:c.236G>A, NM_001142777.2:c.236G>A, NM_001142777.1:c.236G>A, NM_001142778.2:c.236G>A, NM_001142778.1:c.236G>A, XM_005255601.4:c.236G>A, XM_005255601.3:c.236G>A, XM_005255601.2:c.539G>A, XM_005255601.1:c.539G>A, XM_011545960.3:c.236G>A, XM_011545960.2:c.236G>A, XM_011545960.1:c.236G>A, XM_011545962.3:c.236G>A, XM_011545962.2:c.236G>A, XM_011545962.1:c.236G>A, XM_011545961.2:c.236G>A, XM_011545961.1:c.236G>A, XM_017023732.2:c.236G>A, XM_017023732.1:c.236G>A, XM_047434716.1:c.236G>A, NP_079469.2:p.Gly79Glu, NP_001136249.1:p.Gly79Glu, NP_001136250.1:p.Gly79Glu, XP_005255658.2:p.Gly79Glu, XP_011544262.1:p.Gly79Glu, XP_011544264.1:p.Gly79Glu, XP_011544263.1:p.Gly79Glu, XP_016879221.1:p.Gly79Glu, XP_047290672.1:p.Gly79Glu

                      11.

                      rs1442320608 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:30986146 (GRCh38)
                        16:30997467 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:30986145:G:A
                        Gene:
                        HSD3B7 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000084/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1433328302 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:30986103 (GRCh38)
                          16:30997424 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:30986102:C:T
                          Gene:
                          HSD3B7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000016.10:g.30986103C>T, NC_000016.9:g.30997424C>T, NG_052948.1:g.33810C>T, NG_012346.1:g.5906C>T, NM_025193.4:c.221C>T, NM_025193.3:c.221C>T, NM_001142777.2:c.221C>T, NM_001142777.1:c.221C>T, NM_001142778.2:c.221C>T, NM_001142778.1:c.221C>T, XM_005255601.4:c.221C>T, XM_005255601.3:c.221C>T, XM_005255601.2:c.524C>T, XM_005255601.1:c.524C>T, XM_011545960.3:c.221C>T, XM_011545960.2:c.221C>T, XM_011545960.1:c.221C>T, XM_011545962.3:c.221C>T, XM_011545962.2:c.221C>T, XM_011545962.1:c.221C>T, XM_011545961.2:c.221C>T, XM_011545961.1:c.221C>T, XM_017023732.2:c.221C>T, XM_017023732.1:c.221C>T, XM_047434716.1:c.221C>T, NP_079469.2:p.Ala74Val, NP_001136249.1:p.Ala74Val, NP_001136250.1:p.Ala74Val, XP_005255658.2:p.Ala74Val, XP_011544262.1:p.Ala74Val, XP_011544264.1:p.Ala74Val, XP_011544263.1:p.Ala74Val, XP_016879221.1:p.Ala74Val, XP_047290672.1:p.Ala74Val

                          13.

                          rs1432150742 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            16:30985676 (GRCh38)
                            16:30996997 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:30985675:G:T
                            Gene:
                            HSD3B7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000016.10:g.30985676G>T, NC_000016.9:g.30996997G>T, NG_052948.1:g.33383G>T, NG_012346.1:g.5479G>T, NM_025193.4:c.18G>T, NM_025193.3:c.18G>T, NM_001142777.2:c.18G>T, NM_001142777.1:c.18G>T, NM_001142778.2:c.18G>T, NM_001142778.1:c.18G>T, XM_005255601.4:c.18G>T, XM_005255601.3:c.18G>T, XM_005255601.2:c.321G>T, XM_005255601.1:c.321G>T, XM_011545960.3:c.18G>T, XM_011545960.2:c.18G>T, XM_011545960.1:c.18G>T, XM_011545962.3:c.18G>T, XM_011545962.2:c.18G>T, XM_011545962.1:c.18G>T, XM_011545961.2:c.18G>T, XM_011545961.1:c.18G>T, XM_017023732.2:c.18G>T, XM_017023732.1:c.18G>T, XM_047434716.1:c.18G>T, NP_079469.2:p.Gln6His, NP_001136249.1:p.Gln6His, NP_001136250.1:p.Gln6His, XP_005255658.2:p.Gln6His, XP_011544262.1:p.Gln6His, XP_011544264.1:p.Gln6His, XP_011544263.1:p.Gln6His, XP_016879221.1:p.Gln6His, XP_047290672.1:p.Gln6His

                            14.

                            rs1424642614 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:30986494 (GRCh38)
                              16:30997815 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:30986493:G:A
                              Gene:
                              HSD3B7 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.30986494G>A, NC_000016.9:g.30997815G>A, NG_052948.1:g.34201G>A, NG_012346.1:g.6297G>A, NM_025193.4:c.394G>A, NM_025193.3:c.394G>A, NM_001142777.2:c.394G>A, NM_001142777.1:c.394G>A, NM_001142778.2:c.394G>A, NM_001142778.1:c.394G>A, XM_005255601.4:c.394G>A, XM_005255601.3:c.394G>A, XM_005255601.2:c.697G>A, XM_005255601.1:c.697G>A, XM_011545960.3:c.394G>A, XM_011545960.2:c.394G>A, XM_011545960.1:c.394G>A, XM_011545962.3:c.394G>A, XM_011545962.2:c.394G>A, XM_011545962.1:c.394G>A, XM_011545961.2:c.394G>A, XM_011545961.1:c.394G>A, XM_017023732.2:c.394G>A, XM_017023732.1:c.394G>A, XM_047434716.1:c.394G>A, NP_079469.2:p.Val132Ile, NP_001136249.1:p.Val132Ile, NP_001136250.1:p.Val132Ile, XP_005255658.2:p.Val132Ile, XP_011544262.1:p.Val132Ile, XP_011544264.1:p.Val132Ile, XP_011544263.1:p.Val132Ile, XP_016879221.1:p.Val132Ile, XP_047290672.1:p.Val132Ile

                              15.

                              rs1423347339 has merged into rs397514443 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                16:30986173 (GRCh38)
                                16:30997495 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:30986173:CCC:CCCC
                                Gene:
                                HSD3B7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                Clinical significance:
                                pathogenic
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCCC=0./0 (ALFA)
                                C=0.000008/2 (GnomAD_exomes)
                                C=0.000014/2 (GnomAD)
                                C=0.000026/7 (TOPMED)
                                HGVS:
                                NC_000016.10:g.30986176dup, NC_000016.9:g.30997497dup, NG_052948.1:g.33883dup, NG_012346.1:g.5979dup, NM_025193.4:c.294dup, NM_025193.3:c.294dup, NM_001142777.2:c.294dup, NM_001142777.1:c.294dup, NM_001142778.2:c.294dup, NM_001142778.1:c.294dup, XM_005255601.4:c.294dup, XM_005255601.3:c.294dup, XM_005255601.2:c.597dup, XM_005255601.1:c.597dup, XM_011545960.3:c.294dup, XM_011545960.2:c.294dup, XM_011545960.1:c.294dup, XM_011545962.3:c.294dup, XM_011545962.2:c.294dup, XM_011545962.1:c.294dup, XM_011545961.2:c.294dup, XM_011545961.1:c.294dup, XM_017023732.2:c.294dup, XM_017023732.1:c.294dup, XM_047434716.1:c.294dup, NP_079469.2:p.Lys99fs, NP_001136249.1:p.Lys99fs, NP_001136250.1:p.Lys99fs, XP_005255658.2:p.Lys99fs, XP_011544262.1:p.Lys99fs, XP_011544264.1:p.Lys99fs, XP_011544263.1:p.Lys99fs, XP_016879221.1:p.Lys99fs, XP_047290672.1:p.Lys99fs

                                16.

                                rs1419030902 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:30985667 (GRCh38)
                                  16:30996988 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:30985666:C:T
                                  Gene:
                                  HSD3B7 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  HGVS:

                                  17.

                                  rs1417177954 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:30986519 (GRCh38)
                                    16:30997840 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:30986518:A:G
                                    Gene:
                                    HSD3B7 (Varview)
                                    Functional Consequence:
                                    missense_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)
                                    G=0.000342/1 (KOREAN)
                                    HGVS:
                                    NC_000016.10:g.30986519A>G, NC_000016.9:g.30997840A>G, NG_052948.1:g.34226A>G, NG_012346.1:g.6322A>G, NM_025193.4:c.419A>G, NM_025193.3:c.419A>G, NM_001142777.2:c.419A>G, NM_001142777.1:c.419A>G, NM_001142778.2:c.419A>G, NM_001142778.1:c.419A>G, XM_005255601.4:c.419A>G, XM_005255601.3:c.419A>G, XM_005255601.2:c.722A>G, XM_005255601.1:c.722A>G, XM_011545960.3:c.419A>G, XM_011545960.2:c.419A>G, XM_011545960.1:c.419A>G, XM_011545962.3:c.419A>G, XM_011545962.2:c.419A>G, XM_011545962.1:c.419A>G, XM_011545961.2:c.419A>G, XM_011545961.1:c.419A>G, XM_017023732.2:c.419A>G, XM_017023732.1:c.419A>G, XM_047434716.1:c.419A>G, NP_079469.2:p.His140Arg, NP_001136249.1:p.His140Arg, NP_001136250.1:p.His140Arg, XP_005255658.2:p.His140Arg, XP_011544262.1:p.His140Arg, XP_011544264.1:p.His140Arg, XP_011544263.1:p.His140Arg, XP_016879221.1:p.His140Arg, XP_047290672.1:p.His140Arg

                                    18.

                                    rs1416401046 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      16:30987768 (GRCh38)
                                      16:30999089 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:30987767:G:T
                                      Gene:
                                      HSD3B7 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000111/1 (ALFA)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.30987768G>T, NC_000016.9:g.30999089G>T, NG_041829.1:g.27741C>A, NG_012346.1:g.7571G>T, NM_025193.4:c.695G>T, NM_025193.3:c.695G>T, NM_001142777.2:c.532G>T, NM_001142777.1:c.532G>T, NM_001142778.2:c.532G>T, NM_001142778.1:c.532G>T, XM_005255601.4:c.695G>T, XM_005255601.3:c.695G>T, XM_005255601.2:c.998G>T, XM_005255601.1:c.998G>T, XM_011545960.3:c.695G>T, XM_011545960.2:c.695G>T, XM_011545960.1:c.695G>T, XM_011545962.3:c.532G>T, XM_011545962.2:c.532G>T, XM_011545962.1:c.532G>T, XM_011545961.2:c.695G>T, XM_011545961.1:c.695G>T, XM_017023732.2:c.532G>T, XM_017023732.1:c.532G>T, XM_047434716.1:c.695G>T, NP_079469.2:p.Gly232Val, NP_001136249.1:p.Ala178Ser, NP_001136250.1:p.Ala178Ser, XP_005255658.2:p.Gly232Val, XP_011544262.1:p.Gly232Val, XP_011544264.1:p.Ala178Ser, XP_011544263.1:p.Gly232Val, XP_016879221.1:p.Ala178Ser, XP_047290672.1:p.Gly232Val

                                      19.

                                      rs1413301395 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:30986606 (GRCh38)
                                        16:30997927 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:30986605:G:A
                                        Gene:
                                        HSD3B7 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000066/1 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000223/1 (Estonian)
                                        HGVS:
                                        NC_000016.10:g.30986606G>A, NC_000016.9:g.30997927G>A, NG_052948.1:g.34313G>A, NG_012346.1:g.6409G>A, NM_025193.4:c.433G>A, NM_025193.3:c.433G>A, NM_001142777.2:c.433G>A, NM_001142777.1:c.433G>A, NM_001142778.2:c.433G>A, NM_001142778.1:c.433G>A, XM_005255601.4:c.433G>A, XM_005255601.3:c.433G>A, XM_005255601.2:c.736G>A, XM_005255601.1:c.736G>A, XM_011545960.3:c.433G>A, XM_011545960.2:c.433G>A, XM_011545960.1:c.433G>A, XM_011545962.3:c.433G>A, XM_011545962.2:c.433G>A, XM_011545962.1:c.433G>A, XM_011545961.2:c.433G>A, XM_011545961.1:c.433G>A, XM_017023732.2:c.433G>A, XM_017023732.1:c.433G>A, XM_047434716.1:c.433G>A, NP_079469.2:p.Gly145Ser, NP_001136249.1:p.Gly145Ser, NP_001136250.1:p.Gly145Ser, XP_005255658.2:p.Gly145Ser, XP_011544262.1:p.Gly145Ser, XP_011544264.1:p.Gly145Ser, XP_011544263.1:p.Gly145Ser, XP_016879221.1:p.Gly145Ser, XP_047290672.1:p.Gly145Ser

                                        20.

                                        rs1412954522 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:30985785 (GRCh38)
                                          16:30997106 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:30985784:G:A
                                          Gene:
                                          HSD3B7 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.00003/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.30985785G>A, NC_000016.9:g.30997106G>A, NG_052948.1:g.33492G>A, NG_012346.1:g.5588G>A, NM_025193.4:c.127G>A, NM_025193.3:c.127G>A, NM_001142777.2:c.127G>A, NM_001142777.1:c.127G>A, NM_001142778.2:c.127G>A, NM_001142778.1:c.127G>A, XM_005255601.4:c.127G>A, XM_005255601.3:c.127G>A, XM_005255601.2:c.430G>A, XM_005255601.1:c.430G>A, XM_011545960.3:c.127G>A, XM_011545960.2:c.127G>A, XM_011545960.1:c.127G>A, XM_011545962.3:c.127G>A, XM_011545962.2:c.127G>A, XM_011545962.1:c.127G>A, XM_011545961.2:c.127G>A, XM_011545961.1:c.127G>A, XM_017023732.2:c.127G>A, XM_017023732.1:c.127G>A, XM_047434716.1:c.127G>A, NP_079469.2:p.Asp43Asn, NP_001136249.1:p.Asp43Asn, NP_001136250.1:p.Asp43Asn, XP_005255658.2:p.Asp43Asn, XP_011544262.1:p.Asp43Asn, XP_011544264.1:p.Asp43Asn, XP_011544263.1:p.Asp43Asn, XP_016879221.1:p.Asp43Asn, XP_047290672.1:p.Asp43Asn

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