ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) rs764343290
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303

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