ClinVar Miner

List of variants in gene WAS studied for Wiskott-Aldrich syndrome

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NC_000023.11:g.48681722_48688043inv
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs) rs2147266901
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr) rs2147262523
NM_000377.3(WAS):c.1315_1453+204del rs1602179794
NM_000377.3(WAS):c.1337_1338+9del rs1602179810
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs) rs2062432653
NM_000377.3(WAS):c.1429A>G (p.Arg477Gly) rs2147267330
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.210G>A (p.Gly70=) rs886038288
NM_000377.3(WAS):c.226_228del (p.Lys76del)
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu) 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.315dup (p.Val106fs)
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.360+1G>C rs1057520700
NM_000377.3(WAS):c.360+5G>A
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3]) rs587776743
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.445A>T (p.Asn149Tyr) rs2147263992
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.778-1G>A rs2147265861
NM_000377.3(WAS):c.802del (p.Arg268fs) rs2147265894
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.990del (p.Ile331fs) rs2147266326
WAS, 15,800-BP DEL

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