ClinVar Miner

List of variants in gene WAS reported as pathogenic for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.11:g.48681722_48688043inv
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.105_106del (p.Leu35_Phe36insTer)
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1271_1317del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1289del (p.Gly430fs)
NM_000377.3(WAS):c.1289dup (p.Arg431fs)
NM_000377.3(WAS):c.1315_1453+204del rs1602179794
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.1337_1338+9del rs1602179810
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs) rs2062432653
NM_000377.3(WAS):c.1453+1G>A
NM_000377.3(WAS):c.1453+2T>G rs2147267350
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.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
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>T (p.Arg86Leu) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.273+1G>A rs1064794076
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
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.361-1G>C
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
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.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.454C>T (p.Gln152Ter)
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
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.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.691A>T (p.Lys231Ter)
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.802del (p.Arg268fs) rs2147265894
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.879_882del (p.Phe293fs)
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.913C>T (p.Gln305Ter)
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.931+1G>C
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000377.3(WAS):c.984del (p.Pro330fs)
NM_000377.3(WAS):c.990del (p.Ile331fs) rs2147266326
WAS, 15,800-BP DEL

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