ClinVar Miner

List of variants in gene WIPF1 studied for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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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.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.100A>G (p.Asn34Asp) rs373043385 0.00003
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.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.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.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
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

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