ClinVar Miner

List of variants in gene WIPF1 reported as uncertain significance for Wiskott-Aldrich syndrome 2

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys) rs148175242 0.00047
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750 0.00027
NM_001375834.1(WIPF1):c.776C>T (p.Ala259Val) rs139003789 0.00027
NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp) rs770426754 0.00014
NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly) rs147847123 0.00011
NM_001375834.1(WIPF1):c.694G>A (p.Gly232Arg) rs376855242 0.00011
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) rs141730361 0.00009
NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu) rs779235427 0.00009
NM_001375834.1(WIPF1):c.650C>T (p.Pro217Leu) rs11551322 0.00006
NM_001375834.1(WIPF1):c.698G>T (p.Gly233Val) rs372545449 0.00006
NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp) rs143156793 0.00005
NM_001375834.1(WIPF1):c.55A>C (p.Asn19His) rs769425496 0.00005
NM_001375834.1(WIPF1):c.56A>G (p.Asn19Ser) rs369103774 0.00005
NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu) rs148300861 0.00004
NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser) rs140541247 0.00004
NM_001375834.1(WIPF1):c.827C>G (p.Ser276Cys) rs781658089 0.00004
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp) rs373043385 0.00003
NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp) rs1041727019 0.00003
NM_001375834.1(WIPF1):c.51G>A (p.Leu17=) rs535169609 0.00003
NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln) rs145467227 0.00002
NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu) rs770286102 0.00002
NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser) rs759985968 0.00002
NM_001375834.1(WIPF1):c.235G>A (p.Gly79Arg) rs531744802 0.00002
NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu) rs766473130 0.00002
NM_001375834.1(WIPF1):c.509C>G (p.Pro170Arg) rs560424291 0.00002
NM_001375834.1(WIPF1):c.595C>T (p.His199Tyr) rs776631046 0.00002
NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) rs1430804372 0.00002
NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser) rs771227574 0.00001
NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala) rs756471924 0.00001
NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His) rs142991283 0.00001
NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser) rs367686097 0.00001
NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu) rs1481250623 0.00001
NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met) rs752911584 0.00001
NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln) rs776761827 0.00001
NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter) rs764306764 0.00001
NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp) rs1423414500 0.00001
NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg) rs770105478 0.00001
NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu) rs770545171 0.00001
NM_001375834.1(WIPF1):c.409T>C (p.Ser137Pro) rs779896543 0.00001
NM_001375834.1(WIPF1):c.413C>T (p.Ala138Val) rs1684901977 0.00001
NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu) rs765784451 0.00001
NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr) rs144275492 0.00001
NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys) rs374598314 0.00001
NM_001375834.1(WIPF1):c.712T>C (p.Ser238Pro) rs1185793589 0.00001
NM_001375834.1(WIPF1):c.757C>T (p.Pro253Ser) rs763819289 0.00001
NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr) rs774985492 0.00001
NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu) rs891642872 0.00001
NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)
NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg)
NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met) rs1684852145
NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser)
NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn) rs779795011
NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu) rs1225689201
NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu) rs1684847875
NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu) rs770870596
NM_001375834.1(WIPF1):c.1141C>T (p.Pro381Ser)
NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) rs1684719141
NM_001375834.1(WIPF1):c.116A>T (p.Asp39Val)
NM_001375834.1(WIPF1):c.1181C>T (p.Ala394Val)
NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg) rs1684716723
NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val) rs371993338
NM_001375834.1(WIPF1):c.1252C>T (p.Leu418Phe)
NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser) rs1684713583
NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile)
NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg)
NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala) rs2105796927
NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser) rs747335347
NM_001375834.1(WIPF1):c.1361T>A (p.Phe454Tyr)
NM_001375834.1(WIPF1):c.1364A>G (p.Tyr455Cys)
NM_001375834.1(WIPF1):c.13C>T (p.Pro5Ser) rs753073816
NM_001375834.1(WIPF1):c.1426C>A (p.Pro476Thr)
NM_001375834.1(WIPF1):c.1435C>G (p.Leu479Val)
NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly) rs1684685114
NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn)
NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr) rs200376655
NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln) rs1685234520
NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg) rs1685388514
NM_001375834.1(WIPF1):c.209G>A (p.Gly70Asp)
NM_001375834.1(WIPF1):c.217_219dup (p.Gly73_Phe74insGly)
NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg) rs531744802
NM_001375834.1(WIPF1):c.253G>T (p.Gly85Cys)
NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del) rs561738348
NM_001375834.1(WIPF1):c.265G>T (p.Gly89Cys)
NM_001375834.1(WIPF1):c.267_287dup (p.Gly90_Gly96dup) rs760752697
NM_001375834.1(WIPF1):c.271A>C (p.Ser91Arg)
NM_001375834.1(WIPF1):c.320G>C (p.Gly107Ala) rs773373271
NM_001375834.1(WIPF1):c.326C>T (p.Pro109Leu)
NM_001375834.1(WIPF1):c.34C>A (p.Pro12Thr)
NM_001375834.1(WIPF1):c.374G>A (p.Arg125Gln)
NM_001375834.1(WIPF1):c.392C>T (p.Pro131Leu) rs1435025827
NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys) rs1006829187
NM_001375834.1(WIPF1):c.403T>G (p.Ser135Ala)
NM_001375834.1(WIPF1):c.422T>C (p.Phe141Ser)
NM_001375834.1(WIPF1):c.427C>A (p.Pro143Thr)
NM_001375834.1(WIPF1):c.430C>G (p.Pro144Ala) rs144275492
NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr) rs1358662433
NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu) rs560424291
NM_001375834.1(WIPF1):c.51+4_51+7del rs1685384616
NM_001375834.1(WIPF1):c.532T>A (p.Ser178Thr)
NM_001375834.1(WIPF1):c.551C>T (p.Pro184Leu) rs752786667
NM_001375834.1(WIPF1):c.560T>C (p.Val187Ala)
NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala) rs1684887381
NM_001375834.1(WIPF1):c.613C>A (p.Pro205Thr) rs150415094
NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys) rs1685238274
NM_001375834.1(WIPF1):c.664T>G (p.Phe222Val) rs2105807074
NM_001375834.1(WIPF1):c.668C>G (p.Pro223Arg) rs2105807046
NM_001375834.1(WIPF1):c.679G>A (p.Gly227Ser)
NM_001375834.1(WIPF1):c.679G>T (p.Gly227Cys) rs778029521
NM_001375834.1(WIPF1):c.707G>C (p.Arg236Pro) rs1412093478
NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg)
NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn)
NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met) rs1684872337
NM_001375834.1(WIPF1):c.811G>A (p.Val271Met) rs1684870740
NM_001375834.1(WIPF1):c.811G>C (p.Val271Leu) rs1684870740
NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg) rs369736015
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) rs556678311
NM_001375834.1(WIPF1):c.870C>G (p.Asn290Lys) rs2105806273
NM_001375834.1(WIPF1):c.893C>G (p.Pro298Arg)
NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser)
NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu)
NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn)
NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn) rs1397897929
NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp)
NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser)

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