ClinVar Miner

List of variants studied for Wiskott-Aldrich syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 259
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_001375834.1(WIPF1):c.957T>G (p.Pro319=) rs112447307 0.04681
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787 0.01011
NM_001375834.1(WIPF1):c.42G>A (p.Thr14=) rs111761533 0.00937
NM_001375834.1(WIPF1):c.339C>G (p.Ser113=) rs76308107 0.00619
NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=) rs149092210 0.00525
NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=) rs76731102 0.00414
NM_001375834.1(WIPF1):c.78T>C (p.Asn26=) rs35923393 0.00186
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_001375834.1(WIPF1):c.32C>T (p.Pro11Leu) rs148943760 0.00076
NM_001375834.1(WIPF1):c.978C>G (p.Ser326Arg) rs147080148 0.00073
NM_001375834.1(WIPF1):c.182-16G>A rs139908988 0.00055
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser) rs138276021 0.00051
NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys) rs148175242 0.00047
NM_001375834.1(WIPF1):c.645C>T (p.Pro215=) rs141354164 0.00039
NM_001375834.1(WIPF1):c.212G>A (p.Gly71Asp) rs145037448 0.00032
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.159C>T (p.Asp53=) rs147372728 0.00021
NM_001375834.1(WIPF1):c.243C>T (p.Gly81=) rs146533814 0.00020
NM_001375834.1(WIPF1):c.798A>G (p.Pro266=) rs150911269 0.00019
NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=) rs138920689 0.00017
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=) rs41270199 0.00016
NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp) rs770426754 0.00014
NM_001375834.1(WIPF1):c.717C>T (p.Pro239=) rs573445151 0.00013
NM_001375834.1(WIPF1):c.987C>T (p.Asp329=) rs201234000 0.00013
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.30G>A (p.Pro10=) rs745425874 0.00010
NM_001375834.1(WIPF1):c.1129+10G>A rs887452483 0.00009
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) rs141730361 0.00009
NM_001375834.1(WIPF1):c.843G>A (p.Ala281=) rs369696922 0.00009
NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu) rs779235427 0.00009
NM_001375834.1(WIPF1):c.51G>A (p.Leu17=) rs535169609 0.00006
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.147G>A (p.Thr49=) rs770996629 0.00004
NM_001375834.1(WIPF1):c.1506G>A (p.Pro502=) rs368381822 0.00004
NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser) rs140541247 0.00004
NM_001375834.1(WIPF1):c.49C>T (p.Leu17=) rs769395136 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.954G>A (p.Pro318=) rs943312416 0.00004
NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp) rs1041727019 0.00003
NM_001375834.1(WIPF1):c.258C>T (p.Gly86=) rs781522403 0.00003
NM_001375834.1(WIPF1):c.33G>A (p.Pro11=) rs775206272 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.358+13T>C rs752308068 0.00002
NM_001375834.1(WIPF1):c.39G>A (p.Pro13=) rs143623121 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.768C>T (p.Pro256=) rs775538363 0.00002
NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) rs1430804372 0.00002
NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp) rs373043385 0.00001
NM_001375834.1(WIPF1):c.1050G>T (p.Ser350=) rs1451167601 0.00001
NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser) rs771227574 0.00001
NM_001375834.1(WIPF1):c.1092A>G (p.Arg364=) rs199706736 0.00001
NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala) rs756471924 0.00001
NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=) rs1033892508 0.00001
NM_001375834.1(WIPF1):c.1130-18T>C rs1307224263 0.00001
NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=) rs1205840828 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.1314A>G (p.Arg438=) rs1463501006 0.00001
NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu) rs1481250623 0.00001
NM_001375834.1(WIPF1):c.1374G>A (p.Pro458=) rs757711719 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.1497T>A (p.Pro499=) rs749710168 0.00001
NM_001375834.1(WIPF1):c.150C>T (p.Val50=) rs766364703 0.00001
NM_001375834.1(WIPF1):c.207C>T (p.Gly69=) rs138616786 0.00001
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=) rs772302114 0.00001
NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg) rs770105478 0.00001
NM_001375834.1(WIPF1):c.327G>A (p.Pro109=) rs748281934 0.00001
NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu) rs770545171 0.00001
NM_001375834.1(WIPF1):c.393G>A (p.Pro131=) rs138492962 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.519G>A (p.Arg173=) rs757656746 0.00001
NM_001375834.1(WIPF1):c.543T>C (p.Asp181=) rs1298136683 0.00001
NM_001375834.1(WIPF1):c.579C>T (p.Pro193=) rs1352948196 0.00001
NM_001375834.1(WIPF1):c.590G>A (p.Ser197Asn) rs541606974 0.00001
NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys) rs374598314 0.00001
NM_001375834.1(WIPF1):c.639C>T (p.Pro213=) rs1408178933 0.00001
NM_001375834.1(WIPF1):c.678C>T (p.Arg226=) rs749598227 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.759G>A (p.Pro253=) rs1032410011 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.909C>T (p.Ser303=) rs745551139 0.00001
NM_001375834.1(WIPF1):c.912A>G (p.Ser304=) rs747496276 0.00001
NC_000002.11:g.(?_175427255)_(175450321_?)dup
NC_000002.11:g.(?_175427275)_(175450301_?)dup
NC_000002.11:g.(?_175427275)_(175629122_?)dup
NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)
NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg)
NM_001375834.1(WIPF1):c.1017G>A (p.Leu339=)
NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met) rs1684852145
NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser)
NM_001375834.1(WIPF1):c.1050G>A (p.Ser350=)
NM_001375834.1(WIPF1):c.1080G>C (p.Pro360=)
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.1110G>A (p.Arg370=)
NM_001375834.1(WIPF1):c.1116G>T (p.Pro372=)
NM_001375834.1(WIPF1):c.1122C>A (p.Gly374=) rs1033892508
NM_001375834.1(WIPF1):c.1129+13G>A
NM_001375834.1(WIPF1):c.1129+16G>C
NM_001375834.1(WIPF1):c.1129+7C>G rs1005877347
NM_001375834.1(WIPF1):c.1129+9A>G rs1002688852
NM_001375834.1(WIPF1):c.1130-10T>C
NM_001375834.1(WIPF1):c.1130-4C>T rs771873177
NM_001375834.1(WIPF1):c.1130-8dup
NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=)
NM_001375834.1(WIPF1):c.1131C>T (p.Gly377=)
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.1218A>T (p.Gly406=)
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=) rs577852991
NM_001375834.1(WIPF1):c.1230C>G (p.Pro410=) rs1334845649
NM_001375834.1(WIPF1):c.1236T>C (p.Ser412=)
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.1263T>C (p.Asp421=)
NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=)
NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile)
NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg)
NM_001375834.1(WIPF1):c.1299A>G (p.Pro433=) rs2105796945
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) rs1574785867
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.1335A>C (p.Pro445=)
NM_001375834.1(WIPF1):c.1342+20C>T rs77346261
NM_001375834.1(WIPF1):c.1343-14G>A
NM_001375834.1(WIPF1):c.1343-14G>C
NM_001375834.1(WIPF1):c.1343-20C>T
NM_001375834.1(WIPF1):c.1343-5C>T
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.1456+9T>C
NM_001375834.1(WIPF1):c.1457-13T>C rs1265013243
NM_001375834.1(WIPF1):c.1457-14G>A
NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn)
NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr) rs200376655
NM_001375834.1(WIPF1):c.181+13dup
NM_001375834.1(WIPF1):c.181+7A>T
NM_001375834.1(WIPF1):c.181+9A>G rs1476162237
NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln) rs1685234520
NM_001375834.1(WIPF1):c.182-10T>C rs1013513013
NM_001375834.1(WIPF1):c.182-14C>T
NM_001375834.1(WIPF1):c.182-20G>A
NM_001375834.1(WIPF1):c.182-8T>C
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.231C>G (p.Gly77=) rs772302114
NM_001375834.1(WIPF1):c.234C>T (p.Gly78=)
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.279A>C (p.Gly93=)
NM_001375834.1(WIPF1):c.279A>G (p.Gly93=)
NM_001375834.1(WIPF1):c.285C>T (p.Gly95=)
NM_001375834.1(WIPF1):c.30G>C (p.Pro10=) rs745425874
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.358+19T>C
NM_001375834.1(WIPF1):c.359-19T>C
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.432A>C (p.Pro144=)
NM_001375834.1(WIPF1):c.444G>A (p.Gly148=)
NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr) rs1358662433
NM_001375834.1(WIPF1):c.483C>G (p.Pro161=)
NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu) rs560424291
NM_001375834.1(WIPF1):c.51+14C>A
NM_001375834.1(WIPF1):c.51+19_51+22del
NM_001375834.1(WIPF1):c.51+4_51+7del rs1685384616
NM_001375834.1(WIPF1):c.510G>A (p.Pro170=)
NM_001375834.1(WIPF1):c.52-15A>G
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.587C>G (p.Ser196Ter)
NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala) rs1684887381
NM_001375834.1(WIPF1):c.606G>T (p.Gly202=)
NM_001375834.1(WIPF1):c.613C>A (p.Pro205Thr) rs150415094
NM_001375834.1(WIPF1):c.615A>G (p.Pro205=)
NM_001375834.1(WIPF1):c.618G>A (p.Val206=)
NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys) rs1685238274
NM_001375834.1(WIPF1):c.621C>G (p.Pro207=)
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.66G>A (p.Lys22=)
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.709C>T (p.Gln237Ter) rs1684878263
NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg)
NM_001375834.1(WIPF1):c.762T>A (p.Pro254=)
NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn)
NM_001375834.1(WIPF1):c.765C>A (p.Thr255=)
NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met) rs1684872337
NM_001375834.1(WIPF1):c.810A>G (p.Pro270=)
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.843G>C (p.Ala281=)
NM_001375834.1(WIPF1):c.843G>T (p.Ala281=) rs369696922
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.851CTC[5] (p.Pro287dup) 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.894G>A (p.Pro298=)
NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser)
NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu)
NM_001375834.1(WIPF1):c.936T>A (p.Pro312=)
NM_001375834.1(WIPF1):c.936T>G (p.Pro312=) rs1040586347
NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn)
NM_001375834.1(WIPF1):c.961C>T (p.Leu321=)
NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn) rs1397897929
NM_001375834.1(WIPF1):c.975C>G (p.Ser325=) rs751419161
NM_001375834.1(WIPF1):c.978C>T (p.Ser326=)
NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp)
NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser)
NM_001375834.1(WIPF1):c.984T>C (p.Asn328=)
NM_001375834.1(WIPF1):c.996A>G (p.Pro332=) rs2105805756

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.