ClinVar Miner

List of variants reported as pathogenic for X-linked recessive disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) rs773573633 0.00001
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr) rs387907301 0.00001
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)
GRCh37/hg19 Xq25(chrX:122970459-123034511)
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
NC_000023.10:g.(?_122318388)_(123505241_?)del
NC_000023.10:g.(?_123010866)_(123025086_?)del
NC_000023.10:g.(?_123025068)_(123041031_?)del
NC_000023.10:g.(?_123480147)_(123480649_?)del
NC_000023.10:g.(?_123480493)_(123505241_?)del
NC_000023.10:g.(?_123494030)_(123499653_?)del
NC_000023.10:g.(?_123499591)_(123499694_?)del
NC_000023.10:g.(?_123499591)_(123505241_?)del
NC_000023.10:g.(?_123504006)_(123505241_?)del
NC_000023.10:g.(?_43515570)_(43603780_?)del
NC_000023.10:g.(?_43515590)_(43817891_?)del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del
NC_000023.11:g.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
NC_000023.11:g.7050286_7926129del
NC_000023.9:g.9688757-?_9693917+?del
NG_007264.1:g.(31343_33421)_(33522_36040)del
NM_000240.4(MAOA):c.1214del (p.Gly405fs) rs2147107556
NM_000240.4(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.4(MAOA):c.290_303del (p.Leu97fs)
NM_000240.4(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_000240.4(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.4(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000273.3(GPR143):c.361-2A>C rs2146699664
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_000273.3(GPR143):c.370C>T (p.Gln124Ter)
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.548+2T>A rs2083438278
NM_000273.3(GPR143):c.548+2T>C rs2083438278
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter) rs2146705998
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
NM_000351.4:g.(?_6551155)_(8032120_?)del
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_001042750.2(STAG2):c.1412_1416+9del rs2148280047
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter) rs1569507848
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter) rs1317614761
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter) rs2057753419
NM_001042750.2(STAG2):c.867del (p.Phe289fs)
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.342del (p.Trp115fs)
NM_001127898.4(CLCN5):c.371dup (p.Ser126fs)
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs) rs2148096182
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1057-600_1300+79del
NM_001167.4(XIAP):c.1087dup (p.Thr363fs)
NM_001167.4(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) rs2148112149
NM_001167.4(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter) rs2053346219
NM_001167.4(XIAP):c.218G>A (p.Trp73Ter)
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) rs2053346343
NM_001167.4(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.4(XIAP):c.345C>G (p.Tyr115Ter) rs761159697
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.4(XIAP):c.371del (p.Arg124fs)
NM_001167.4(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.4(XIAP):c.416_417del (p.Tyr139fs)
NM_001167.4(XIAP):c.421_422del (p.Leu141fs) rs2053348573
NM_001167.4(XIAP):c.446dup (p.Ser150fs) rs2053348979
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
NM_001167.4(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.4(XIAP):c.568dup (p.Tyr190fs)
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter) rs2053350325
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del) rs2148089962
NM_001167.4(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001167.4(XIAP):c.60del (p.Glu21fs) rs2148089318
NM_001167.4(XIAP):c.64G>T (p.Glu22Ter)
NM_001167.4(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
NM_001167.4(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.4(XIAP):c.755dup (p.Asn252fs) rs2148090158
NM_001167.4(XIAP):c.764dup (p.Asn255fs)
NM_001167.4(XIAP):c.894_898del (p.Lys299fs) rs2148092759
NM_001167.4(XIAP):c.921_924del (p.Thr308fs) rs2148092792
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.4(XIAP):c.969G>A (p.Trp323Ter)
NM_001167.4(XIAP):c.978-2A>G rs2148096152
NM_001167.4(XIAP):c.985del (p.Tyr329fs)
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) rs137853165
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) rs137853168
NM_001320752.2(STS):c.1241+1G>T rs1601748137
NM_001320752.2(STS):c.1316A>G (p.His439Arg) rs137853169
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) rs137853166
NM_001320752.2(STS):c.272G>A (p.Trp91Ter) rs1463414987
NM_001320752.2(STS):c.806+1G>A
NM_002351.5(SH2D1A):c.-10C>T rs1603236465
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
NM_002351.5(SH2D1A):c.137+5G>C rs587777612
NM_002351.5(SH2D1A):c.138-1G>A
NM_002351.5(SH2D1A):c.138-1G>T rs1603238847
NM_002351.5(SH2D1A):c.138-2A>G
NM_002351.5(SH2D1A):c.149_201+106del
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)
NM_002351.5(SH2D1A):c.201+1G>A
NM_002351.5(SH2D1A):c.201+1dup
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) rs2147534047
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) rs781767722
NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys) rs2033690347
NM_004176.5(SREBF1):c.1582_1584del (p.Asn528del) rs2033689385
NM_004176.5(SREBF1):c.1589T>C (p.Leu530Pro) rs2033688284
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.4(MBTPS2):c.671-9T>G rs587777305
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter) rs2067071714
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
Single allele

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