ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) rs1569488381 0.00001
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.900+2T>C rs2091712381
NM_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro) rs2147040261
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter) rs2148228335
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004606.5(TAF1):c.3407-1G>A
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) rs2147870607
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.322_348+280del rs2148033540
NM_022101.4(STEEP1):c.163del (p.Arg55fs) rs2147360775
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs) rs104886368
NM_033380.3(COL4A5):c.3017-2A>G
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) rs1327176357
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4995-1G>T rs2148003624
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln) rs2147322042
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541

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