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Items: 1 to 20 of 463

1.

rs1490742343 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    X:136743716 (GRCh38)
    X:135825876 (GRCh37)
    Canonical SPDI:
    NC_000023.11:136743716:CC:CCC
    Gene:
    ARHGEF6 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCC=0./0 (ALFA)
    HGVS:
    NC_000023.11:g.136743718dup, NC_000023.10:g.135825877dup, NG_008873.1:g.42628dup, NM_004840.3:c.529dup, NM_004840.2:c.529dup, NM_001306177.2:c.67dup, NM_001306177.1:c.67dup, XM_011531412.4:c.529dup, XM_011531412.3:c.529dup, XM_011531412.2:c.529dup, XM_011531412.1:c.529dup, XM_005262499.4:c.529dup, XM_005262499.3:c.529dup, XM_005262499.2:c.529dup, XM_005262499.1:c.529dup, XM_011531415.3:c.358dup, XM_011531415.2:c.358dup, XM_011531415.1:c.358dup, XM_017029975.3:c.529dup, XM_017029975.2:c.529dup, XM_017029975.1:c.529dup, XM_011531413.3:c.529dup, XM_011531413.2:c.529dup, XM_011531413.1:c.529dup, XM_047442675.1:c.67dup, XM_047442673.1:c.358dup, XM_047442674.1:c.358dup, XM_047442672.1:c.529dup, NP_004831.1:p.Asp177fs, NP_001293106.1:p.Asp23fs, XP_011529714.1:p.Asp177fs, XP_005262556.1:p.Asp177fs, XP_011529717.1:p.Asp120fs, XP_016885464.1:p.Asp177fs, XP_011529715.1:p.Asp177fs, XP_047298631.1:p.Asp23fs, XP_047298629.1:p.Asp120fs, XP_047298630.1:p.Asp120fs, XP_047298628.1:p.Asp177fs

    2.

    rs1489915588 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      X:136672108 (GRCh38)
      X:135754267 (GRCh37)
      Canonical SPDI:
      NC_000023.11:136672107:C:A,NC_000023.11:136672107:C:T
      Gene:
      ARHGEF6 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      T=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.136672108C>A, NC_000023.11:g.136672108C>T, NC_000023.10:g.135754267C>A, NC_000023.10:g.135754267C>T, NG_008873.1:g.114237G>T, NG_008873.1:g.114237G>A, NM_004840.3:c.2047G>T, NM_004840.3:c.2047G>A, NM_004840.2:c.2047G>T, NM_004840.2:c.2047G>A, NM_001306177.2:c.1585G>T, NM_001306177.2:c.1585G>A, NM_001306177.1:c.1585G>T, NM_001306177.1:c.1585G>A, XM_011531412.4:c.2128G>T, XM_011531412.4:c.2128G>A, XM_011531412.3:c.2128G>T, XM_011531412.3:c.2128G>A, XM_011531412.2:c.2128G>T, XM_011531412.2:c.2128G>A, XM_011531412.1:c.2128G>T, XM_011531412.1:c.2128G>A, XM_005262499.4:c.1900G>T, XM_005262499.4:c.1900G>A, XM_005262499.3:c.1900G>T, XM_005262499.3:c.1900G>A, XM_005262499.2:c.1900G>T, XM_005262499.2:c.1900G>A, XM_005262499.1:c.1900G>T, XM_005262499.1:c.1900G>A, XM_011531415.3:c.1957G>T, XM_011531415.3:c.1957G>A, XM_011531415.2:c.1957G>T, XM_011531415.2:c.1957G>A, XM_011531415.1:c.1957G>T, XM_011531415.1:c.1957G>A, XM_017029975.3:c.2140G>T, XM_017029975.3:c.2140G>A, XM_017029975.2:c.2140G>T, XM_017029975.2:c.2140G>A, XM_017029975.1:c.2140G>T, XM_017029975.1:c.2140G>A, XM_011531413.3:c.2059G>T, XM_011531413.3:c.2059G>A, XM_011531413.2:c.2059G>T, XM_011531413.2:c.2059G>A, XM_011531413.1:c.2059G>T, XM_011531413.1:c.2059G>A, XM_047442675.1:c.1597G>T, XM_047442675.1:c.1597G>A, XM_047442673.1:c.1888G>T, XM_047442673.1:c.1888G>A, XM_047442674.1:c.1876G>T, XM_047442674.1:c.1876G>A, XM_047442672.1:c.2026G>T, XM_047442672.1:c.2026G>A, NP_004831.1:p.Asp683Tyr, NP_004831.1:p.Asp683Asn, NP_001293106.1:p.Asp529Tyr, NP_001293106.1:p.Asp529Asn, XP_011529714.1:p.Asp710Tyr, XP_011529714.1:p.Asp710Asn, XP_005262556.1:p.Asp634Tyr, XP_005262556.1:p.Asp634Asn, XP_011529717.1:p.Asp653Tyr, XP_011529717.1:p.Asp653Asn, XP_016885464.1:p.Asp714Tyr, XP_016885464.1:p.Asp714Asn, XP_011529715.1:p.Asp687Tyr, XP_011529715.1:p.Asp687Asn, XP_047298631.1:p.Asp533Tyr, XP_047298631.1:p.Asp533Asn, XP_047298629.1:p.Asp630Tyr, XP_047298629.1:p.Asp630Asn, XP_047298630.1:p.Asp626Tyr, XP_047298630.1:p.Asp626Asn, XP_047298628.1:p.Asp676Tyr, XP_047298628.1:p.Asp676Asn

      3.

      rs1488710936 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:136743602 (GRCh38)
        X:135825761 (GRCh37)
        Canonical SPDI:
        NC_000023.11:136743601:C:T
        Gene:
        ARHGEF6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000005/1 (GnomAD_exomes)
        T=0.00001/1 (GnomAD)
        HGVS:
        NC_000023.11:g.136743602C>T, NC_000023.10:g.135825761C>T, NG_008873.1:g.42743G>A, NM_004840.3:c.644G>A, NM_004840.2:c.644G>A, NM_001306177.2:c.182G>A, NM_001306177.1:c.182G>A, XM_011531412.4:c.644G>A, XM_011531412.3:c.644G>A, XM_011531412.2:c.644G>A, XM_011531412.1:c.644G>A, XM_005262499.4:c.644G>A, XM_005262499.3:c.644G>A, XM_005262499.2:c.644G>A, XM_005262499.1:c.644G>A, XM_011531415.3:c.473G>A, XM_011531415.2:c.473G>A, XM_011531415.1:c.473G>A, XM_017029975.3:c.644G>A, XM_017029975.2:c.644G>A, XM_017029975.1:c.644G>A, XM_011531413.3:c.644G>A, XM_011531413.2:c.644G>A, XM_011531413.1:c.644G>A, XM_047442675.1:c.182G>A, XM_047442673.1:c.473G>A, XM_047442674.1:c.473G>A, XM_047442672.1:c.644G>A, NP_004831.1:p.Arg215His, NP_001293106.1:p.Arg61His, XP_011529714.1:p.Arg215His, XP_005262556.1:p.Arg215His, XP_011529717.1:p.Arg158His, XP_016885464.1:p.Arg215His, XP_011529715.1:p.Arg215His, XP_047298631.1:p.Arg61His, XP_047298629.1:p.Arg158His, XP_047298630.1:p.Arg158His, XP_047298628.1:p.Arg215His

        4.

        rs1483719180 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:136685721 (GRCh38)
          X:135767880 (GRCh37)
          Canonical SPDI:
          NC_000023.11:136685720:C:T
          Gene:
          ARHGEF6 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.136685721C>T, NC_000023.10:g.135767880C>T, NG_008873.1:g.100624G>A, NM_004840.3:c.1348G>A, NM_004840.2:c.1348G>A, NM_001306177.2:c.886G>A, NM_001306177.1:c.886G>A, XM_011531412.4:c.1429G>A, XM_011531412.3:c.1429G>A, XM_011531412.2:c.1429G>A, XM_011531412.1:c.1429G>A, XM_005262499.4:c.1348G>A, XM_005262499.3:c.1348G>A, XM_005262499.2:c.1348G>A, XM_005262499.1:c.1348G>A, XM_011531415.3:c.1258G>A, XM_011531415.2:c.1258G>A, XM_011531415.1:c.1258G>A, XM_017029975.3:c.1429G>A, XM_017029975.2:c.1429G>A, XM_017029975.1:c.1429G>A, XM_011531413.3:c.1348G>A, XM_011531413.2:c.1348G>A, XM_011531413.1:c.1348G>A, XM_047442675.1:c.886G>A, XM_047442673.1:c.1177G>A, XM_047442674.1:c.1177G>A, XM_047442672.1:c.1348G>A, NP_004831.1:p.Val450Met, NP_001293106.1:p.Val296Met, XP_011529714.1:p.Val477Met, XP_005262556.1:p.Val450Met, XP_011529717.1:p.Val420Met, XP_016885464.1:p.Val477Met, XP_011529715.1:p.Val450Met, XP_047298631.1:p.Val296Met, XP_047298629.1:p.Val393Met, XP_047298630.1:p.Val393Met, XP_047298628.1:p.Val450Met

          5.

          rs1482781033 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:136737455 (GRCh38)
            X:135819614 (GRCh37)
            Canonical SPDI:
            NC_000023.11:136737454:G:A
            Gene:
            ARHGEF6 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.00001/1 (GnomAD)
            HGVS:

            6.

            rs1482760845 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:136706962 (GRCh38)
              X:135789121 (GRCh37)
              Canonical SPDI:
              NC_000023.11:136706961:T:C
              Gene:
              ARHGEF6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000022/4 (GnomAD_exomes)
              HGVS:
              NC_000023.11:g.136706962T>C, NC_000023.10:g.135789121T>C, NG_008873.1:g.79383A>G, NM_004840.3:c.992A>G, NM_004840.2:c.992A>G, NM_001306177.2:c.530A>G, NM_001306177.1:c.530A>G, XM_011531412.4:c.1073A>G, XM_011531412.3:c.1073A>G, XM_011531412.2:c.1073A>G, XM_011531412.1:c.1073A>G, XM_005262499.4:c.992A>G, XM_005262499.3:c.992A>G, XM_005262499.2:c.992A>G, XM_005262499.1:c.992A>G, XM_011531415.3:c.902A>G, XM_011531415.2:c.902A>G, XM_011531415.1:c.902A>G, XM_017029975.3:c.1073A>G, XM_017029975.2:c.1073A>G, XM_017029975.1:c.1073A>G, XM_011531413.3:c.992A>G, XM_011531413.2:c.992A>G, XM_011531413.1:c.992A>G, XM_047442675.1:c.530A>G, XM_047442673.1:c.821A>G, XM_047442674.1:c.821A>G, XM_047442672.1:c.992A>G, NP_004831.1:p.Tyr331Cys, NP_001293106.1:p.Tyr177Cys, XP_011529714.1:p.Tyr358Cys, XP_005262556.1:p.Tyr331Cys, XP_011529717.1:p.Tyr301Cys, XP_016885464.1:p.Tyr358Cys, XP_011529715.1:p.Tyr331Cys, XP_047298631.1:p.Tyr177Cys, XP_047298629.1:p.Tyr274Cys, XP_047298630.1:p.Tyr274Cys, XP_047298628.1:p.Tyr331Cys

              7.

              rs1482691719 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:136743722 (GRCh38)
                X:135825881 (GRCh37)
                Canonical SPDI:
                NC_000023.11:136743721:T:C
                Gene:
                ARHGEF6 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000023.11:g.136743722T>C, NC_000023.10:g.135825881T>C, NG_008873.1:g.42623A>G, NM_004840.3:c.524A>G, NM_004840.2:c.524A>G, NM_001306177.2:c.62A>G, NM_001306177.1:c.62A>G, XM_011531412.4:c.524A>G, XM_011531412.3:c.524A>G, XM_011531412.2:c.524A>G, XM_011531412.1:c.524A>G, XM_005262499.4:c.524A>G, XM_005262499.3:c.524A>G, XM_005262499.2:c.524A>G, XM_005262499.1:c.524A>G, XM_011531415.3:c.353A>G, XM_011531415.2:c.353A>G, XM_011531415.1:c.353A>G, XM_017029975.3:c.524A>G, XM_017029975.2:c.524A>G, XM_017029975.1:c.524A>G, XM_011531413.3:c.524A>G, XM_011531413.2:c.524A>G, XM_011531413.1:c.524A>G, XM_047442675.1:c.62A>G, XM_047442673.1:c.353A>G, XM_047442674.1:c.353A>G, XM_047442672.1:c.524A>G, NP_004831.1:p.Asn175Ser, NP_001293106.1:p.Asn21Ser, XP_011529714.1:p.Asn175Ser, XP_005262556.1:p.Asn175Ser, XP_011529717.1:p.Asn118Ser, XP_016885464.1:p.Asn175Ser, XP_011529715.1:p.Asn175Ser, XP_047298631.1:p.Asn21Ser, XP_047298629.1:p.Asn118Ser, XP_047298630.1:p.Asn118Ser, XP_047298628.1:p.Asn175Ser

                8.

                rs1481570865 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:136685696 (GRCh38)
                  X:135767855 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:136685695:A:G
                  Gene:
                  ARHGEF6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.00001/1 (GnomAD)
                  G=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000023.11:g.136685696A>G, NC_000023.10:g.135767855A>G, NG_008873.1:g.100649T>C, NM_004840.3:c.1373T>C, NM_004840.2:c.1373T>C, NM_001306177.2:c.911T>C, NM_001306177.1:c.911T>C, XM_011531412.4:c.1454T>C, XM_011531412.3:c.1454T>C, XM_011531412.2:c.1454T>C, XM_011531412.1:c.1454T>C, XM_005262499.4:c.1373T>C, XM_005262499.3:c.1373T>C, XM_005262499.2:c.1373T>C, XM_005262499.1:c.1373T>C, XM_011531415.3:c.1283T>C, XM_011531415.2:c.1283T>C, XM_011531415.1:c.1283T>C, XM_017029975.3:c.1454T>C, XM_017029975.2:c.1454T>C, XM_017029975.1:c.1454T>C, XM_011531413.3:c.1373T>C, XM_011531413.2:c.1373T>C, XM_011531413.1:c.1373T>C, XM_047442675.1:c.911T>C, XM_047442673.1:c.1202T>C, XM_047442674.1:c.1202T>C, XM_047442672.1:c.1373T>C, NP_004831.1:p.Val458Ala, NP_001293106.1:p.Val304Ala, XP_011529714.1:p.Val485Ala, XP_005262556.1:p.Val458Ala, XP_011529717.1:p.Val428Ala, XP_016885464.1:p.Val485Ala, XP_011529715.1:p.Val458Ala, XP_047298631.1:p.Val304Ala, XP_047298629.1:p.Val401Ala, XP_047298630.1:p.Val401Ala, XP_047298628.1:p.Val458Ala

                  9.

                  rs1479202674 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:136708718 (GRCh38)
                    X:135790877 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:136708717:T:C
                    Gene:
                    ARHGEF6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000023.11:g.136708718T>C, NC_000023.10:g.135790877T>C, NG_008873.1:g.77627A>G, NM_004840.3:c.880A>G, NM_004840.2:c.880A>G, NM_001306177.2:c.418A>G, NM_001306177.1:c.418A>G, XM_011531412.4:c.961A>G, XM_011531412.3:c.961A>G, XM_011531412.2:c.961A>G, XM_011531412.1:c.961A>G, XM_005262499.4:c.880A>G, XM_005262499.3:c.880A>G, XM_005262499.2:c.880A>G, XM_005262499.1:c.880A>G, XM_011531415.3:c.790A>G, XM_011531415.2:c.790A>G, XM_011531415.1:c.790A>G, XM_017029975.3:c.961A>G, XM_017029975.2:c.961A>G, XM_017029975.1:c.961A>G, XM_011531413.3:c.880A>G, XM_011531413.2:c.880A>G, XM_011531413.1:c.880A>G, XM_047442675.1:c.418A>G, XM_047442673.1:c.709A>G, XM_047442674.1:c.709A>G, XM_047442672.1:c.880A>G, NP_004831.1:p.Thr294Ala, NP_001293106.1:p.Thr140Ala, XP_011529714.1:p.Thr321Ala, XP_005262556.1:p.Thr294Ala, XP_011529717.1:p.Thr264Ala, XP_016885464.1:p.Thr321Ala, XP_011529715.1:p.Thr294Ala, XP_047298631.1:p.Thr140Ala, XP_047298629.1:p.Thr237Ala, XP_047298630.1:p.Thr237Ala, XP_047298628.1:p.Thr294Ala

                    10.

                    rs1475849637 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:136680837 (GRCh38)
                      X:135762996 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:136680836:T:C
                      Gene:
                      ARHGEF6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.00001/1 (GnomAD)
                      HGVS:
                      NC_000023.11:g.136680837T>C, NC_000023.10:g.135762996T>C, NG_008873.1:g.105508A>G, NM_004840.3:c.1598A>G, NM_004840.2:c.1598A>G, NM_001306177.2:c.1136A>G, NM_001306177.1:c.1136A>G, XM_011531412.4:c.1679A>G, XM_011531412.3:c.1679A>G, XM_011531412.2:c.1679A>G, XM_011531412.1:c.1679A>G, XM_005262499.4:c.1598A>G, XM_005262499.3:c.1598A>G, XM_005262499.2:c.1598A>G, XM_005262499.1:c.1598A>G, XM_011531415.3:c.1508A>G, XM_011531415.2:c.1508A>G, XM_011531415.1:c.1508A>G, XM_017029975.3:c.1679A>G, XM_017029975.2:c.1679A>G, XM_017029975.1:c.1679A>G, XM_011531413.3:c.1598A>G, XM_011531413.2:c.1598A>G, XM_011531413.1:c.1598A>G, XM_047442675.1:c.1136A>G, XM_047442673.1:c.1427A>G, XM_047442674.1:c.1427A>G, XM_047442672.1:c.1598A>G, NP_004831.1:p.Asn533Ser, NP_001293106.1:p.Asn379Ser, XP_011529714.1:p.Asn560Ser, XP_005262556.1:p.Asn533Ser, XP_011529717.1:p.Asn503Ser, XP_016885464.1:p.Asn560Ser, XP_011529715.1:p.Asn533Ser, XP_047298631.1:p.Asn379Ser, XP_047298629.1:p.Asn476Ser, XP_047298630.1:p.Asn476Ser, XP_047298628.1:p.Asn533Ser

                      11.

                      rs1473480109 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:136732127 (GRCh38)
                        X:135814286 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:136732126:G:A
                        Gene:
                        ARHGEF6 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000023.11:g.136732127G>A, NC_000023.10:g.135814286G>A, NG_008873.1:g.54218C>T, NM_004840.3:c.707C>T, NM_004840.2:c.707C>T, NM_001306177.2:c.245C>T, NM_001306177.1:c.245C>T, XM_011531412.4:c.788C>T, XM_011531412.3:c.788C>T, XM_011531412.2:c.788C>T, XM_011531412.1:c.788C>T, XM_005262499.4:c.707C>T, XM_005262499.3:c.707C>T, XM_005262499.2:c.707C>T, XM_005262499.1:c.707C>T, XM_011531415.3:c.617C>T, XM_011531415.2:c.617C>T, XM_011531415.1:c.617C>T, XM_017029975.3:c.788C>T, XM_017029975.2:c.788C>T, XM_017029975.1:c.788C>T, XM_011531413.3:c.707C>T, XM_011531413.2:c.707C>T, XM_011531413.1:c.707C>T, XM_047442675.1:c.245C>T, XM_047442673.1:c.536C>T, XM_047442674.1:c.536C>T, XM_047442672.1:c.707C>T, NP_004831.1:p.Pro236Leu, NP_001293106.1:p.Pro82Leu, XP_011529714.1:p.Pro263Leu, XP_005262556.1:p.Pro236Leu, XP_011529717.1:p.Pro206Leu, XP_016885464.1:p.Pro263Leu, XP_011529715.1:p.Pro236Leu, XP_047298631.1:p.Pro82Leu, XP_047298629.1:p.Pro179Leu, XP_047298630.1:p.Pro179Leu, XP_047298628.1:p.Pro236Leu

                        12.

                        rs1472441650 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          X:136779422 (GRCh38)
                          X:135861581 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:136779421:G:T
                          Gene:
                          ARHGEF6 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000011/2 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1469725127 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:136680765 (GRCh38)
                            X:135762924 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:136680764:G:A
                            Gene:
                            ARHGEF6 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000005/1 (GnomAD_exomes)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000023.11:g.136680765G>A, NC_000023.10:g.135762924G>A, NG_008873.1:g.105580C>T, NM_004840.3:c.1670C>T, NM_004840.2:c.1670C>T, NM_001306177.2:c.1208C>T, NM_001306177.1:c.1208C>T, XM_011531412.4:c.1751C>T, XM_011531412.3:c.1751C>T, XM_011531412.2:c.1751C>T, XM_011531412.1:c.1751C>T, XM_005262499.4:c.1670C>T, XM_005262499.3:c.1670C>T, XM_005262499.2:c.1670C>T, XM_005262499.1:c.1670C>T, XM_011531415.3:c.1580C>T, XM_011531415.2:c.1580C>T, XM_011531415.1:c.1580C>T, XM_017029975.3:c.1751C>T, XM_017029975.2:c.1751C>T, XM_017029975.1:c.1751C>T, XM_011531413.3:c.1670C>T, XM_011531413.2:c.1670C>T, XM_011531413.1:c.1670C>T, XM_047442675.1:c.1208C>T, XM_047442673.1:c.1499C>T, XM_047442674.1:c.1499C>T, XM_047442672.1:c.1670C>T, NP_004831.1:p.Ser557Phe, NP_001293106.1:p.Ser403Phe, XP_011529714.1:p.Ser584Phe, XP_005262556.1:p.Ser557Phe, XP_011529717.1:p.Ser527Phe, XP_016885464.1:p.Ser584Phe, XP_011529715.1:p.Ser557Phe, XP_047298631.1:p.Ser403Phe, XP_047298629.1:p.Ser500Phe, XP_047298630.1:p.Ser500Phe, XP_047298628.1:p.Ser557Phe

                            14.

                            rs1469560107 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:136747564 (GRCh38)
                              X:135829723 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:136747563:C:T
                              Gene:
                              ARHGEF6 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000023.11:g.136747564C>T, NC_000023.10:g.135829723C>T, NG_008873.1:g.38781G>A, NM_004840.3:c.278G>A, NM_004840.2:c.278G>A, NM_001306177.2:c.-185G>A, NM_001306177.1:c.-185G>A, XM_011531412.4:c.278G>A, XM_011531412.3:c.278G>A, XM_011531412.2:c.278G>A, XM_011531412.1:c.278G>A, XM_005262499.4:c.278G>A, XM_005262499.3:c.278G>A, XM_005262499.2:c.278G>A, XM_005262499.1:c.278G>A, XM_011531415.3:c.107G>A, XM_011531415.2:c.107G>A, XM_011531415.1:c.107G>A, XM_017029975.3:c.278G>A, XM_017029975.2:c.278G>A, XM_017029975.1:c.278G>A, XM_011531413.3:c.278G>A, XM_011531413.2:c.278G>A, XM_011531413.1:c.278G>A, XM_047442675.1:c.-185G>A, XM_047442673.1:c.107G>A, XM_047442674.1:c.107G>A, XM_047442672.1:c.278G>A, NP_004831.1:p.Gly93Glu, XP_011529714.1:p.Gly93Glu, XP_005262556.1:p.Gly93Glu, XP_011529717.1:p.Gly36Glu, XP_016885464.1:p.Gly93Glu, XP_011529715.1:p.Gly93Glu, XP_047298629.1:p.Gly36Glu, XP_047298630.1:p.Gly36Glu, XP_047298628.1:p.Gly93Glu

                              15.

                              rs1466675036 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:136681917 (GRCh38)
                                X:135764076 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:136681916:C:T
                                Gene:
                                ARHGEF6 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000142/2 (ALFA)
                                T=0.00001/1 (GnomAD)
                                HGVS:
                                NC_000023.11:g.136681917C>T, NC_000023.10:g.135764076C>T, NG_008873.1:g.104428G>A, NM_004840.3:c.1531G>A, NM_004840.2:c.1531G>A, NM_001306177.2:c.1069G>A, NM_001306177.1:c.1069G>A, XM_011531412.4:c.1612G>A, XM_011531412.3:c.1612G>A, XM_011531412.2:c.1612G>A, XM_011531412.1:c.1612G>A, XM_005262499.4:c.1531G>A, XM_005262499.3:c.1531G>A, XM_005262499.2:c.1531G>A, XM_005262499.1:c.1531G>A, XM_011531415.3:c.1441G>A, XM_011531415.2:c.1441G>A, XM_011531415.1:c.1441G>A, XM_017029975.3:c.1612G>A, XM_017029975.2:c.1612G>A, XM_017029975.1:c.1612G>A, XM_011531413.3:c.1531G>A, XM_011531413.2:c.1531G>A, XM_011531413.1:c.1531G>A, XM_047442675.1:c.1069G>A, XM_047442673.1:c.1360G>A, XM_047442674.1:c.1360G>A, XM_047442672.1:c.1531G>A, NP_004831.1:p.Gly511Arg, NP_001293106.1:p.Gly357Arg, XP_011529714.1:p.Gly538Arg, XP_005262556.1:p.Gly511Arg, XP_011529717.1:p.Gly481Arg, XP_016885464.1:p.Gly538Arg, XP_011529715.1:p.Gly511Arg, XP_047298631.1:p.Gly357Arg, XP_047298629.1:p.Gly454Arg, XP_047298630.1:p.Gly454Arg, XP_047298628.1:p.Gly511Arg

                                16.

                                rs1464926161 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  X:136685732 (GRCh38)
                                  X:135767891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:136685731:T:A
                                  Gene:
                                  ARHGEF6 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.136685732T>A, NC_000023.10:g.135767891T>A, NG_008873.1:g.100613A>T, NM_004840.3:c.1337A>T, NM_004840.2:c.1337A>T, NM_001306177.2:c.875A>T, NM_001306177.1:c.875A>T, XM_011531412.4:c.1418A>T, XM_011531412.3:c.1418A>T, XM_011531412.2:c.1418A>T, XM_011531412.1:c.1418A>T, XM_005262499.4:c.1337A>T, XM_005262499.3:c.1337A>T, XM_005262499.2:c.1337A>T, XM_005262499.1:c.1337A>T, XM_011531415.3:c.1247A>T, XM_011531415.2:c.1247A>T, XM_011531415.1:c.1247A>T, XM_017029975.3:c.1418A>T, XM_017029975.2:c.1418A>T, XM_017029975.1:c.1418A>T, XM_011531413.3:c.1337A>T, XM_011531413.2:c.1337A>T, XM_011531413.1:c.1337A>T, XM_047442675.1:c.875A>T, XM_047442673.1:c.1166A>T, XM_047442674.1:c.1166A>T, XM_047442672.1:c.1337A>T, NP_004831.1:p.Asn446Ile, NP_001293106.1:p.Asn292Ile, XP_011529714.1:p.Asn473Ile, XP_005262556.1:p.Asn446Ile, XP_011529717.1:p.Asn416Ile, XP_016885464.1:p.Asn473Ile, XP_011529715.1:p.Asn446Ile, XP_047298631.1:p.Asn292Ile, XP_047298629.1:p.Asn389Ile, XP_047298630.1:p.Asn389Ile, XP_047298628.1:p.Asn446Ile

                                  17.

                                  rs1463990441 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:136737428 (GRCh38)
                                    X:135819587 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:136737427:T:C
                                    Gene:
                                    ARHGEF6 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,intron_variant
                                    HGVS:

                                    18.

                                    rs1461701984 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:136676663 (GRCh38)
                                      X:135758822 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:136676662:C:T
                                      Gene:
                                      ARHGEF6 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.00001/1 (GnomAD)
                                      HGVS:
                                      NC_000023.11:g.136676663C>T, NC_000023.10:g.135758822C>T, NG_008873.1:g.109682G>A, NM_004840.3:c.1906G>A, NM_004840.2:c.1906G>A, NM_001306177.2:c.1444G>A, NM_001306177.1:c.1444G>A, XM_011531412.4:c.1987G>A, XM_011531412.3:c.1987G>A, XM_011531412.2:c.1987G>A, XM_011531412.1:c.1987G>A, XM_005262499.4:c.1759G>A, XM_005262499.3:c.1759G>A, XM_005262499.2:c.1759G>A, XM_005262499.1:c.1759G>A, XM_011531415.3:c.1816G>A, XM_011531415.2:c.1816G>A, XM_011531415.1:c.1816G>A, XM_017029975.3:c.1999G>A, XM_017029975.2:c.1999G>A, XM_017029975.1:c.1999G>A, XM_011531413.3:c.1918G>A, XM_011531413.2:c.1918G>A, XM_011531413.1:c.1918G>A, XM_047442675.1:c.1456G>A, XM_047442673.1:c.1747G>A, XM_047442674.1:c.1735G>A, XM_047442672.1:c.1885G>A, NP_004831.1:p.Glu636Lys, NP_001293106.1:p.Glu482Lys, XP_011529714.1:p.Glu663Lys, XP_005262556.1:p.Glu587Lys, XP_011529717.1:p.Glu606Lys, XP_016885464.1:p.Glu667Lys, XP_011529715.1:p.Glu640Lys, XP_047298631.1:p.Glu486Lys, XP_047298629.1:p.Glu583Lys, XP_047298630.1:p.Glu579Lys, XP_047298628.1:p.Glu629Lys

                                      19.

                                      rs1460831915 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:136706956 (GRCh38)
                                        X:135789115 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:136706955:G:A
                                        Gene:
                                        ARHGEF6 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000023.11:g.136706956G>A, NC_000023.10:g.135789115G>A, NG_008873.1:g.79389C>T, NM_004840.3:c.998C>T, NM_004840.2:c.998C>T, NM_001306177.2:c.536C>T, NM_001306177.1:c.536C>T, XM_011531412.4:c.1079C>T, XM_011531412.3:c.1079C>T, XM_011531412.2:c.1079C>T, XM_011531412.1:c.1079C>T, XM_005262499.4:c.998C>T, XM_005262499.3:c.998C>T, XM_005262499.2:c.998C>T, XM_005262499.1:c.998C>T, XM_011531415.3:c.908C>T, XM_011531415.2:c.908C>T, XM_011531415.1:c.908C>T, XM_017029975.3:c.1079C>T, XM_017029975.2:c.1079C>T, XM_017029975.1:c.1079C>T, XM_011531413.3:c.998C>T, XM_011531413.2:c.998C>T, XM_011531413.1:c.998C>T, XM_047442675.1:c.536C>T, XM_047442673.1:c.827C>T, XM_047442674.1:c.827C>T, XM_047442672.1:c.998C>T, NP_004831.1:p.Ala333Val, NP_001293106.1:p.Ala179Val, XP_011529714.1:p.Ala360Val, XP_005262556.1:p.Ala333Val, XP_011529717.1:p.Ala303Val, XP_016885464.1:p.Ala360Val, XP_011529715.1:p.Ala333Val, XP_047298631.1:p.Ala179Val, XP_047298629.1:p.Ala276Val, XP_047298630.1:p.Ala276Val, XP_047298628.1:p.Ala333Val

                                        20.

                                        rs1460660551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          X:136685742 (GRCh38)
                                          X:135767901 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:136685741:C:A
                                          Gene:
                                          ARHGEF6 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.136685742C>A, NC_000023.10:g.135767901C>A, NG_008873.1:g.100603G>T, NM_004840.3:c.1327G>T, NM_004840.2:c.1327G>T, NM_001306177.2:c.865G>T, NM_001306177.1:c.865G>T, XM_011531412.4:c.1408G>T, XM_011531412.3:c.1408G>T, XM_011531412.2:c.1408G>T, XM_011531412.1:c.1408G>T, XM_005262499.4:c.1327G>T, XM_005262499.3:c.1327G>T, XM_005262499.2:c.1327G>T, XM_005262499.1:c.1327G>T, XM_011531415.3:c.1237G>T, XM_011531415.2:c.1237G>T, XM_011531415.1:c.1237G>T, XM_017029975.3:c.1408G>T, XM_017029975.2:c.1408G>T, XM_017029975.1:c.1408G>T, XM_011531413.3:c.1327G>T, XM_011531413.2:c.1327G>T, XM_011531413.1:c.1327G>T, XM_047442675.1:c.865G>T, XM_047442673.1:c.1156G>T, XM_047442674.1:c.1156G>T, XM_047442672.1:c.1327G>T, NP_004831.1:p.Asp443Tyr, NP_001293106.1:p.Asp289Tyr, XP_011529714.1:p.Asp470Tyr, XP_005262556.1:p.Asp443Tyr, XP_011529717.1:p.Asp413Tyr, XP_016885464.1:p.Asp470Tyr, XP_011529715.1:p.Asp443Tyr, XP_047298631.1:p.Asp289Tyr, XP_047298629.1:p.Asp386Tyr, XP_047298630.1:p.Asp386Tyr, XP_047298628.1:p.Asp443Tyr

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