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Items: 1 to 20 of 293

1.

rs1487566880 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:53429845 (GRCh38)
    12:53823629 (GRCh37)
    Canonical SPDI:
    NC_000012.12:53429844:G:A
    Gene:
    AMHR2 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000028/1 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:

    2.

    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

      3.

      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

        4.

        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

          5.

          rs1475238683 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:53429916 (GRCh38)
            12:53823700 (GRCh37)
            Canonical SPDI:
            NC_000012.12:53429915:A:G
            Gene:
            AMHR2 (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.53429916A>G, NC_000012.11:g.53823700A>G, NG_015981.1:g.11062A>G, NM_020547.3:c.1226A>G, NM_020547.2:c.1226A>G, NM_001164690.2:c.1226A>G, NM_001164690.1:c.1226A>G, XM_011538186.4:c.401A>G, XM_011538186.3:c.401A>G, XM_011538186.2:c.401A>G, XM_011538186.1:c.401A>G, XM_011538173.2:c.1286A>G, XM_011538173.1:c.1286A>G, XM_011538174.2:c.1283A>G, XM_011538174.1:c.1283A>G, XM_011538176.2:c.1229A>G, XM_011538176.1:c.1229A>G, XM_017019179.2:c.1286A>G, XM_017019179.1:c.1286A>G, XM_011538178.2:c.1067A>G, XM_011538178.1:c.1067A>G, XM_011538180.2:c.953A>G, XM_011538180.1:c.953A>G, XM_011538181.2:c.950A>G, XM_011538181.1:c.950A>G, NP_065434.1:p.Asp409Gly, NP_001158162.1:p.Asp409Gly, XP_011536488.1:p.Asp134Gly, XP_011536475.1:p.Asp429Gly, XP_011536476.1:p.Asp428Gly, XP_011536478.1:p.Asp410Gly, XP_016874668.1:p.Asp429Gly, XP_011536480.1:p.Asp356Gly, XP_011536482.1:p.Asp318Gly, XP_011536483.1:p.Asp317Gly

            6.

            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

              7.

              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

                8.

                rs1471218684 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:53430214 (GRCh38)
                  12:53823998 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:53430213:C:T
                  Gene:
                  AMHR2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000142/2 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1468171222 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    12:53429900 (GRCh38)
                    12:53823684 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:53429899:G:A,NC_000012.12:53429899:G:C
                    Gene:
                    AMHR2 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000012.12:g.53429900G>A, NC_000012.12:g.53429900G>C, NC_000012.11:g.53823684G>A, NC_000012.11:g.53823684G>C, NG_015981.1:g.11046G>A, NG_015981.1:g.11046G>C, NM_020547.3:c.1210G>A, NM_020547.3:c.1210G>C, NM_020547.2:c.1210G>A, NM_020547.2:c.1210G>C, NM_001164690.2:c.1210G>A, NM_001164690.2:c.1210G>C, NM_001164690.1:c.1210G>A, NM_001164690.1:c.1210G>C, XM_011538186.4:c.385G>A, XM_011538186.4:c.385G>C, XM_011538186.3:c.385G>A, XM_011538186.3:c.385G>C, XM_011538186.2:c.385G>A, XM_011538186.2:c.385G>C, XM_011538186.1:c.385G>A, XM_011538186.1:c.385G>C, XM_011538173.2:c.1270G>A, XM_011538173.2:c.1270G>C, XM_011538173.1:c.1270G>A, XM_011538173.1:c.1270G>C, XM_011538174.2:c.1267G>A, XM_011538174.2:c.1267G>C, XM_011538174.1:c.1267G>A, XM_011538174.1:c.1267G>C, XM_011538176.2:c.1213G>A, XM_011538176.2:c.1213G>C, XM_011538176.1:c.1213G>A, XM_011538176.1:c.1213G>C, XM_017019179.2:c.1270G>A, XM_017019179.2:c.1270G>C, XM_017019179.1:c.1270G>A, XM_017019179.1:c.1270G>C, XM_011538178.2:c.1051G>A, XM_011538178.2:c.1051G>C, XM_011538178.1:c.1051G>A, XM_011538178.1:c.1051G>C, XM_011538180.2:c.937G>A, XM_011538180.2:c.937G>C, XM_011538180.1:c.937G>A, XM_011538180.1:c.937G>C, XM_011538181.2:c.934G>A, XM_011538181.2:c.934G>C, XM_011538181.1:c.934G>A, XM_011538181.1:c.934G>C, NP_065434.1:p.Ala404Thr, NP_065434.1:p.Ala404Pro, NP_001158162.1:p.Ala404Thr, NP_001158162.1:p.Ala404Pro, XP_011536488.1:p.Ala129Thr, XP_011536488.1:p.Ala129Pro, XP_011536475.1:p.Ala424Thr, XP_011536475.1:p.Ala424Pro, XP_011536476.1:p.Ala423Thr, XP_011536476.1:p.Ala423Pro, XP_011536478.1:p.Ala405Thr, XP_011536478.1:p.Ala405Pro, XP_016874668.1:p.Ala424Thr, XP_016874668.1:p.Ala424Pro, XP_011536480.1:p.Ala351Thr, XP_011536480.1:p.Ala351Pro, XP_011536482.1:p.Ala313Thr, XP_011536482.1:p.Ala313Pro, XP_011536483.1:p.Ala312Thr, XP_011536483.1:p.Ala312Pro

                    10.

                    rs1460537370 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:53429936 (GRCh38)
                      12:53823720 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:53429935:C:T
                      Gene:
                      AMHR2 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.53429936C>T, NC_000012.11:g.53823720C>T, NG_015981.1:g.11082C>T, NM_020547.3:c.1246C>T, NM_020547.2:c.1246C>T, NM_001164690.2:c.1246C>T, NM_001164690.1:c.1246C>T, XM_011538186.4:c.421C>T, XM_011538186.3:c.421C>T, XM_011538186.2:c.421C>T, XM_011538186.1:c.421C>T, XM_011538173.2:c.1306C>T, XM_011538173.1:c.1306C>T, XM_011538174.2:c.1303C>T, XM_011538174.1:c.1303C>T, XM_011538176.2:c.1249C>T, XM_011538176.1:c.1249C>T, XM_017019179.2:c.1306C>T, XM_017019179.1:c.1306C>T, XM_011538178.2:c.1087C>T, XM_011538178.1:c.1087C>T, XM_011538180.2:c.973C>T, XM_011538180.1:c.973C>T, XM_011538181.2:c.970C>T, XM_011538181.1:c.970C>T, NP_065434.1:p.Leu416Phe, NP_001158162.1:p.Leu416Phe, XP_011536488.1:p.Leu141Phe, XP_011536475.1:p.Leu436Phe, XP_011536476.1:p.Leu435Phe, XP_011536478.1:p.Leu417Phe, XP_016874668.1:p.Leu436Phe, XP_011536480.1:p.Leu363Phe, XP_011536482.1:p.Leu325Phe, XP_011536483.1:p.Leu324Phe

                      11.

                      rs1452594237 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:53429852 (GRCh38)
                        12:53823636 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:53429851:G:A
                        Gene:
                        AMHR2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.53429852G>A, NC_000012.11:g.53823636G>A, NG_015981.1:g.10998G>A, NM_020547.3:c.1162G>A, NM_020547.2:c.1162G>A, NM_001164690.2:c.1162G>A, NM_001164690.1:c.1162G>A, XM_011538186.4:c.337G>A, XM_011538186.3:c.337G>A, XM_011538186.2:c.337G>A, XM_011538186.1:c.337G>A, XM_011538173.2:c.1222G>A, XM_011538173.1:c.1222G>A, XM_011538174.2:c.1219G>A, XM_011538174.1:c.1219G>A, XM_011538176.2:c.1165G>A, XM_011538176.1:c.1165G>A, XM_017019179.2:c.1222G>A, XM_017019179.1:c.1222G>A, XM_011538178.2:c.1003G>A, XM_011538178.1:c.1003G>A, XM_011538180.2:c.889G>A, XM_011538180.1:c.889G>A, XM_011538181.2:c.886G>A, XM_011538181.1:c.886G>A, NP_065434.1:p.Ala388Thr, NP_001158162.1:p.Ala388Thr, XP_011536488.1:p.Ala113Thr, XP_011536475.1:p.Ala408Thr, XP_011536476.1:p.Ala407Thr, XP_011536478.1:p.Ala389Thr, XP_016874668.1:p.Ala408Thr, XP_011536480.1:p.Ala335Thr, XP_011536482.1:p.Ala297Thr, XP_011536483.1:p.Ala296Thr

                        12.

                        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

                          13.

                          rs1433856647 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:53429951 (GRCh38)
                            12:53823735 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:53429950:C:T
                            Gene:
                            AMHR2 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1428952669 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:53431254 (GRCh38)
                              12:53825038 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:53431253:A:G
                              Gene:
                              AMHR2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000021/3 (GnomAD)
                              G=0.000026/7 (TOPMED)
                              HGVS:
                              NC_000012.12:g.53431254A>G, NC_000012.11:g.53825038A>G, NG_015981.1:g.12400A>G, NM_020547.3:c.1503A>G, NM_020547.2:c.1503A>G, NM_001164690.2:c.*62A>G, NM_001164690.1:c.*62A>G, NM_001164691.2:c.1218A>G, NM_001164691.1:c.1218A>G, XM_011538186.4:c.678A>G, XM_011538186.3:c.678A>G, XM_011538186.2:c.678A>G, XM_011538186.1:c.678A>G, XM_011538173.2:c.1563A>G, XM_011538173.1:c.1563A>G, XM_011538174.2:c.1560A>G, XM_011538174.1:c.1560A>G, XM_011538176.2:c.1506A>G, XM_011538176.1:c.1506A>G, XM_017019179.2:c.*70A>G, XM_017019179.1:c.*70A>G, XM_011538183.2:c.*62A>G, XM_011538183.1:c.*62A>G, XM_011538178.2:c.1344A>G, XM_011538178.1:c.1344A>G, XM_011538184.2:c.*62A>G, XM_011538184.1:c.*62A>G, XM_011538179.2:c.1278A>G, XM_011538179.1:c.1278A>G, XM_024448938.2:c.1221A>G, XM_024448938.1:c.1221A>G, XM_011538180.2:c.1230A>G, XM_011538180.1:c.1230A>G, XM_011538181.2:c.1227A>G, XM_011538181.1:c.1227A>G, XM_011538185.2:c.933A>G, XM_011538185.1:c.933A>G

                              15.

                              rs1424348422 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:53431236 (GRCh38)
                                12:53825020 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:53431235:G:A
                                Gene:
                                AMHR2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                NC_000012.12:g.53431236G>A, NC_000012.11:g.53825020G>A, NG_015981.1:g.12382G>A, NM_020547.3:c.1485G>A, NM_020547.2:c.1485G>A, NM_001164690.2:c.*44G>A, NM_001164690.1:c.*44G>A, NM_001164691.2:c.1200G>A, NM_001164691.1:c.1200G>A, XM_011538186.4:c.660G>A, XM_011538186.3:c.660G>A, XM_011538186.2:c.660G>A, XM_011538186.1:c.660G>A, XM_011538173.2:c.1545G>A, XM_011538173.1:c.1545G>A, XM_011538174.2:c.1542G>A, XM_011538174.1:c.1542G>A, XM_011538176.2:c.1488G>A, XM_011538176.1:c.1488G>A, XM_017019179.2:c.*52G>A, XM_017019179.1:c.*52G>A, XM_011538183.2:c.*44G>A, XM_011538183.1:c.*44G>A, XM_011538178.2:c.1326G>A, XM_011538178.1:c.1326G>A, XM_011538184.2:c.*44G>A, XM_011538184.1:c.*44G>A, XM_011538179.2:c.1260G>A, XM_011538179.1:c.1260G>A, XM_024448938.2:c.1203G>A, XM_024448938.1:c.1203G>A, XM_011538180.2:c.1212G>A, XM_011538180.1:c.1212G>A, XM_011538181.2:c.1209G>A, XM_011538181.1:c.1209G>A, XM_011538185.2:c.915G>A, XM_011538185.1:c.915G>A

                                16.

                                rs1420746736 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CCCTGCC>- [Show Flanks]
                                  Chromosome:
                                  12:53429577 (GRCh38)
                                  12:53823361 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:53429573:GCCCCCTGCC:GCC
                                  Gene:
                                  AMHR2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant,coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GCC=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.53429577_53429583del, NC_000012.11:g.53823361_53823367del, NG_015981.1:g.10723_10729del, NM_020547.3:c.1092_1098del, NM_020547.2:c.1092_1098del, NM_001164690.2:c.1092_1098del, NM_001164690.1:c.1092_1098del, NM_001164691.2:c.1092_1098del, NM_001164691.1:c.1092_1098del, XM_011538186.4:c.267_273del, XM_011538186.3:c.267_273del, XM_011538186.2:c.267_273del, XM_011538186.1:c.267_273del, XM_011538173.2:c.1152_1158del, XM_011538173.1:c.1152_1158del, XM_011538174.2:c.1149_1155del, XM_011538174.1:c.1149_1155del, XM_011538176.2:c.1095_1101del, XM_011538176.1:c.1095_1101del, XM_017019179.2:c.1152_1158del, XM_017019179.1:c.1152_1158del, XM_011538183.2:c.1152_1158del, XM_011538183.1:c.1152_1158del, XM_011538178.2:c.933_939del, XM_011538178.1:c.933_939del, XM_011538184.2:c.1152_1158del, XM_011538184.1:c.1152_1158del, XM_011538179.2:c.1152_1158del, XM_011538179.1:c.1152_1158del, XM_024448938.2:c.1095_1101del, XM_024448938.1:c.1095_1101del, XM_011538180.2:c.819_825del, XM_011538180.1:c.819_825del, XM_011538181.2:c.816_822del, XM_011538181.1:c.816_822del, XM_047428700.1:c.*89_*95del, NP_065434.1:p.Pro365fs, NP_001158162.1:p.Pro365fs, NP_001158163.1:p.Pro365fs, XP_011536488.1:p.Pro90fs, XP_011536475.1:p.Pro385fs, XP_011536476.1:p.Pro384fs, XP_011536478.1:p.Pro366fs, XP_016874668.1:p.Pro385fs, XP_011536485.1:p.Pro385fs, XP_011536480.1:p.Pro312fs, XP_011536486.1:p.Pro385fs, XP_011536481.1:p.Pro385fs, XP_024304706.1:p.Pro366fs, XP_011536482.1:p.Pro274fs, XP_011536483.1:p.Pro273fs

                                  17.

                                  rs1420633375 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TGCCC>- [Show Flanks]
                                    Chromosome:
                                    12:53431362 (GRCh38)
                                    12:53825146 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:53431359:CCTGCCC:CC
                                    Gene:
                                    AMHR2 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CC=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.53431362_53431366del, NC_000012.11:g.53825146_53825150del, NG_015981.1:g.12508_12512del, NM_020547.3:c.1611_1615del, NM_020547.2:c.1611_1615del, NM_001164690.2:c.*170_*174del, NM_001164690.1:c.*170_*174del, NM_001164691.2:c.1326_1330del, NM_001164691.1:c.1326_1330del, XM_011538186.4:c.786_790del, XM_011538186.3:c.786_790del, XM_011538186.2:c.786_790del, XM_011538186.1:c.786_790del, XM_011538173.2:c.1671_1675del, XM_011538173.1:c.1671_1675del, XM_011538174.2:c.1668_1672del, XM_011538174.1:c.1668_1672del, XM_011538176.2:c.1614_1618del, XM_011538176.1:c.1614_1618del, XM_017019179.2:c.*178_*182del, XM_011538183.2:c.*170_*174del, XM_011538183.1:c.*170_*174del, XM_011538178.2:c.1452_1456del, XM_011538178.1:c.1452_1456del, XM_011538184.2:c.*170_*174del, XM_011538184.1:c.*170_*174del, XM_011538179.2:c.1386_1390del, XM_011538179.1:c.1386_1390del, XM_024448938.2:c.1329_1333del, XM_024448938.1:c.1329_1333del, XM_011538180.2:c.1338_1342del, XM_011538180.1:c.1338_1342del, XM_011538181.2:c.1335_1339del, XM_011538181.1:c.1335_1339del, XM_011538185.2:c.1041_1045del, XM_011538185.1:c.1041_1045del, NP_065434.1:p.Ala538fs, NP_001158163.1:p.Ala443fs, XP_011536488.1:p.Ala263fs, XP_011536475.1:p.Ala558fs, XP_011536476.1:p.Ala557fs, XP_011536478.1:p.Ala539fs, XP_011536480.1:p.Ala485fs, XP_011536481.1:p.Ala463fs, XP_024304706.1:p.Ala444fs, XP_011536482.1:p.Ala447fs, XP_011536483.1:p.Ala446fs, XP_011536487.1:p.Ala348fs

                                    18.

                                    rs1418164952 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:53425483 (GRCh38)
                                      12:53819267 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:53425482:G:A
                                      Gene:
                                      AMHR2 (Varview)
                                      Functional Consequence:
                                      missense_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.53425483G>A, NC_000012.11:g.53819267G>A, NG_015981.1:g.6629G>A, NM_020547.3:c.531G>A, NM_020547.2:c.531G>A, NM_001164690.2:c.531G>A, NM_001164690.1:c.531G>A, NM_001164691.2:c.531G>A, NM_001164691.1:c.531G>A, XM_011538186.4:c.37G>A, XM_011538186.3:c.37G>A, XM_011538186.2:c.37G>A, XM_011538186.1:c.37G>A, XM_011538173.2:c.531G>A, XM_011538173.1:c.531G>A, XM_011538174.2:c.531G>A, XM_011538174.1:c.531G>A, XM_011538176.2:c.531G>A, XM_011538176.1:c.531G>A, XM_017019179.2:c.531G>A, XM_017019179.1:c.531G>A, XM_011538183.2:c.531G>A, XM_011538183.1:c.531G>A, XM_011538178.2:c.531G>A, XM_011538178.1:c.531G>A, XM_011538184.2:c.531G>A, XM_011538184.1:c.531G>A, XM_011538179.2:c.531G>A, XM_011538179.1:c.531G>A, XM_024448938.2:c.531G>A, XM_024448938.1:c.531G>A, XM_011538180.2:c.284G>A, XM_011538180.1:c.284G>A, XM_011538181.2:c.284G>A, XM_011538181.1:c.284G>A, XM_011538185.2:c.531G>A, XM_011538185.1:c.531G>A, XM_047428700.1:c.531G>A, XP_011536488.1:p.Ala13Thr, XP_011536482.1:p.Cys95Tyr, XP_011536483.1:p.Cys95Tyr

                                      19.

                                      rs1416548131 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:53425469 (GRCh38)
                                        12:53819253 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:53425468:A:G
                                        Gene:
                                        AMHR2 (Varview)
                                        Functional Consequence:
                                        missense_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        G=0.00003/8 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.53425469A>G, NC_000012.11:g.53819253A>G, NG_015981.1:g.6615A>G, NM_020547.3:c.517A>G, NM_020547.2:c.517A>G, NM_001164690.2:c.517A>G, NM_001164690.1:c.517A>G, NM_001164691.2:c.517A>G, NM_001164691.1:c.517A>G, XM_011538186.4:c.23A>G, XM_011538186.3:c.23A>G, XM_011538186.2:c.23A>G, XM_011538186.1:c.23A>G, XM_011538173.2:c.517A>G, XM_011538173.1:c.517A>G, XM_011538174.2:c.517A>G, XM_011538174.1:c.517A>G, XM_011538176.2:c.517A>G, XM_011538176.1:c.517A>G, XM_017019179.2:c.517A>G, XM_017019179.1:c.517A>G, XM_011538183.2:c.517A>G, XM_011538183.1:c.517A>G, XM_011538178.2:c.517A>G, XM_011538178.1:c.517A>G, XM_011538184.2:c.517A>G, XM_011538184.1:c.517A>G, XM_011538179.2:c.517A>G, XM_011538179.1:c.517A>G, XM_024448938.2:c.517A>G, XM_024448938.1:c.517A>G, XM_011538180.2:c.270A>G, XM_011538180.1:c.270A>G, XM_011538181.2:c.270A>G, XM_011538181.1:c.270A>G, XM_011538185.2:c.517A>G, XM_011538185.1:c.517A>G, XM_047428700.1:c.517A>G, NP_065434.1:p.Lys173Glu, NP_001158162.1:p.Lys173Glu, NP_001158163.1:p.Lys173Glu, XP_011536488.1:p.Lys8Arg, XP_011536475.1:p.Lys173Glu, XP_011536476.1:p.Lys173Glu, XP_011536478.1:p.Lys173Glu, XP_016874668.1:p.Lys173Glu, XP_011536485.1:p.Lys173Glu, XP_011536480.1:p.Lys173Glu, XP_011536486.1:p.Lys173Glu, XP_011536481.1:p.Lys173Glu, XP_024304706.1:p.Lys173Glu, XP_011536487.1:p.Lys173Glu, XP_047284656.1:p.Lys173Glu

                                        20.

                                        rs1412712654 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          12:53431346 (GRCh38)
                                          12:53825130 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:53431345:A:T
                                          Gene:
                                          AMHR2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.53431346A>T, NC_000012.11:g.53825130A>T, NG_015981.1:g.12492A>T, NM_020547.3:c.1595A>T, NM_020547.2:c.1595A>T, NM_001164690.2:c.*154A>T, NM_001164690.1:c.*154A>T, NM_001164691.2:c.1310A>T, NM_001164691.1:c.1310A>T, XM_011538186.4:c.770A>T, XM_011538186.3:c.770A>T, XM_011538186.2:c.770A>T, XM_011538186.1:c.770A>T, XM_011538173.2:c.1655A>T, XM_011538173.1:c.1655A>T, XM_011538174.2:c.1652A>T, XM_011538174.1:c.1652A>T, XM_011538176.2:c.1598A>T, XM_011538176.1:c.1598A>T, XM_017019179.2:c.*162A>T, XM_011538183.2:c.*154A>T, XM_011538183.1:c.*154A>T, XM_011538178.2:c.1436A>T, XM_011538178.1:c.1436A>T, XM_011538184.2:c.*154A>T, XM_011538184.1:c.*154A>T, XM_011538179.2:c.1370A>T, XM_011538179.1:c.1370A>T, XM_024448938.2:c.1313A>T, XM_024448938.1:c.1313A>T, XM_011538180.2:c.1322A>T, XM_011538180.1:c.1322A>T, XM_011538181.2:c.1319A>T, XM_011538181.1:c.1319A>T, XM_011538185.2:c.1025A>T, XM_011538185.1:c.1025A>T, NP_065434.1:p.Asp532Val, NP_001158163.1:p.Asp437Val, XP_011536488.1:p.Asp257Val, XP_011536475.1:p.Asp552Val, XP_011536476.1:p.Asp551Val, XP_011536478.1:p.Asp533Val, XP_011536480.1:p.Asp479Val, XP_011536481.1:p.Asp457Val, XP_024304706.1:p.Asp438Val, XP_011536482.1:p.Asp441Val, XP_011536483.1:p.Asp440Val, XP_011536487.1:p.Asp342Val

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