ClinVar Miner

List of variants in gene WAS reported as uncertain significance for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) rs1286831963 0.00002
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys) rs1257775061 0.00002
NM_000377.3(WAS):c.679C>T (p.Arg227Cys) rs1395882218 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) rs1557007203 0.00001
NM_000377.3(WAS):c.1130G>A (p.Arg377His) rs868995772 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu) rs1557007283 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe) rs782605668 0.00001
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) rs1557006588 0.00001
NM_000377.3(WAS):c.459T>G (p.Ser153Arg) rs1557006590 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_000377.3(WAS):c.74C>T (p.Thr25Ile) rs374574436 0.00001
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) rs1557007029 0.00001
NM_000377.3(WAS):c.926G>A (p.Arg309His) rs1557007058 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) rs1395979315 0.00001
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) rs1178247738 0.00001
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542243)_(48549553_?)dup
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu) rs267606468
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) rs2062428888
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr) rs2147266477
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) rs1043747875
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg) rs1602179582
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) rs782596670
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) rs782784813
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) rs2062430786
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) rs2062431125
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) rs2062431180
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg) rs782489472
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
NM_000377.3(WAS):c.1453+6C>G
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp) rs975384814
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) rs1569494232
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala) rs2147268585
NM_000377.3(WAS):c.149T>A (p.Val50Asp) rs2147262772
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?) rs2147268618
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
NM_000377.3(WAS):c.156G>C (p.Gln52His)
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) rs782350319
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
NM_000377.3(WAS):c.273G>A (p.Gln91=)
NM_000377.3(WAS):c.274-9C>G rs2062416001
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) rs2062416153
NM_000377.3(WAS):c.296A>G (p.Gln99Arg) rs2062416153
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
NM_000377.3(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.3(WAS):c.360+6T>C
NM_000377.3(WAS):c.371C>A (p.Ala124Glu) rs782543817
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.388G>A (p.Asp130Asn) rs1557006548
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) rs1372273668
NM_000377.3(WAS):c.427_429del (p.Glu143del)
NM_000377.3(WAS):c.467G>C (p.Arg156Thr) rs2062418154
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
NM_000377.3(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.3(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.3(WAS):c.505+4A>G
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
NM_000377.3(WAS):c.52G>A (p.Val18Ile) rs1569493676
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
NM_000377.3(WAS):c.554A>T (p.Gln185Leu) rs2147264325
NM_000377.3(WAS):c.559+8C>G rs1602177756
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.3(WAS):c.601G>A (p.Asp201Asn) rs2147264847
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
NM_000377.3(WAS):c.633A>G (p.Arg211=) rs2147264887
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) rs947162120
NM_000377.3(WAS):c.734+3G>A
NM_000377.3(WAS):c.747C>A (p.His249Gln)
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.777+4A>C
NM_000377.3(WAS):c.777+6dup rs2147265723
NM_000377.3(WAS):c.777C>T (p.Asp259=) rs2147265709
NM_000377.3(WAS):c.790G>A (p.Asp264Asn) rs2147265872
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
NM_000377.3(WAS):c.805A>T (p.Ser269Cys) rs2147265903
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
NM_000377.3(WAS):c.841C>A (p.Leu281Ile) rs2147265956
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) rs2062427019
NM_000377.3(WAS):c.88_90del (p.His30del)
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
NM_000377.3(WAS):c.919A>G (p.Met307Val)
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) rs1215457658
NM_000377.3(WAS):c.931+5G>C
NM_000377.3(WAS):c.947C>A (p.Pro316His) rs2147266241
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
NM_000377.3(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
NM_000377.3(WAS):c.991A>T (p.Ile331Phe) rs2147266334
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)

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