ClinVar Miner

List of variants in gene MAF, WWOX studied for Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12

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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00193
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) rs139253468 0.00081
NM_016373.4(WWOX):c.1203C>T (p.Ser401=) rs201428060 0.00044
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) rs200815431 0.00031
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser) rs201606637 0.00031
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) rs202002431 0.00029
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) rs369959670 0.00023
NM_016373.4(WWOX):c.1179G>A (p.Thr393=) rs376293017 0.00018
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059 0.00016
NM_016373.4(WWOX):c.1078G>A (p.Val360Met) rs200019508 0.00013
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) rs76204496 0.00012
NM_016373.4(WWOX):c.1170C>T (p.Ser390=) rs372635911 0.00010
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=) rs372703745 0.00006
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr) rs199585408 0.00006
NM_016373.4(WWOX):c.1189C>T (p.Leu397=) rs779612341 0.00006
NM_016373.4(WWOX):c.1077C>T (p.Thr359=) rs150912992 0.00005
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln) rs373148311 0.00005
NM_016373.4(WWOX):c.1057-4C>T rs555716977 0.00003
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr) rs767667847 0.00003
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) rs780939546 0.00003
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp) rs750042007 0.00003
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys) rs770155582 0.00002
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu) rs1474278988 0.00002
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu) rs1484856529 0.00002
NM_016373.4(WWOX):c.1057-18T>G rs780546419 0.00001
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile) rs1555547940 0.00001
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=) rs368680750 0.00001
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) rs778218106 0.00001
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly) rs2051755192 0.00001
NM_016373.4(WWOX):c.1107G>A (p.Glu369=) rs369673368 0.00001
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser) rs770628801 0.00001
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg) rs587777127 0.00001
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile) rs775460117 0.00001
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr) rs758746365 0.00001
NM_016373.4(WWOX):c.1143C>T (p.Arg381=) rs1427739406 0.00001
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser) rs544760115 0.00001
NM_016373.4(WWOX):c.1158A>G (p.Pro386=) rs755586346 0.00001
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly) rs1316600993 0.00001
NM_016373.4(WWOX):c.1182C>G (p.Ala394=) rs2051761780 0.00001
NM_016373.4(WWOX):c.1183C>A (p.Arg395=) rs750042007 0.00001
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) rs923268639 0.00001
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr) rs375970162 0.00001
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly) rs2051763292 0.00001
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp) rs923748427 0.00001
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter) rs1197462916 0.00001
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro) rs368397011 0.00001
NM_016373.4(WWOX):c.1227T>C (p.Leu409=) rs1370851633 0.00001
NM_016373.4(WWOX):c.1236G>A (p.Gln412=) rs752615341 0.00001
NC_000016.10:g.(?_79211588)_(79211816_?)del
NC_000016.9:g.(?_78133676)_(79633799_?)del
NM_016373.4(WWOX):c.1057-10G>C rs981471566
NM_016373.4(WWOX):c.1057-10G>T
NM_016373.4(WWOX):c.1057-13_1057-11del rs1374485283
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC rs751116802
NM_016373.4(WWOX):c.1057-17_1057-14del rs750753794
NM_016373.4(WWOX):c.1057-18_1057-17dup rs1412456452
NM_016373.4(WWOX):c.1057-20C>T rs1164075619
NM_016373.4(WWOX):c.1057-22_1057-19del rs762256792
NM_016373.4(WWOX):c.1057-22_1057-20del rs2150867224
NM_016373.4(WWOX):c.1057-2A>G rs1233583078
NM_016373.4(WWOX):c.1057-3C>T rs143302415
NM_016373.4(WWOX):c.1057-7T>C rs1170929076
NM_016373.4(WWOX):c.1057-9G>C rs777442435
NM_016373.4(WWOX):c.1057-9_1057-6dup rs2150867300
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) rs770155582
NM_016373.4(WWOX):c.1059A>C (p.Gln353His) rs1459368049
NM_016373.4(WWOX):c.1062G>A (p.Gln354=)
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val) rs1436796387
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr) rs1293248727
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro) rs1567624901
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser) rs1555547940
NM_016373.4(WWOX):c.1077C>G (p.Thr359=) rs150912992
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg) rs2051754918
NM_016373.4(WWOX):c.1086T>C (p.Cys362=) rs755448649
NM_016373.4(WWOX):c.1102C>T (p.Leu368=) rs2051755991
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg) rs1188884174
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp) rs780816542
NM_016373.4(WWOX):c.1110T>A (p.Gly370=) rs901897952
NM_016373.4(WWOX):c.1110T>G (p.Gly370=) rs901897952
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs) rs2051756247
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg) rs745846599
NM_016373.4(WWOX):c.1113G>A (p.Leu371=) rs2150867604
NM_016373.4(WWOX):c.1113G>T (p.Leu371=) rs2150867604
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu) rs1064793798
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg) rs1400576596
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val) rs769877812
NM_016373.4(WWOX):c.1119G>C (p.Gly373=) rs2544383619
NM_016373.4(WWOX):c.1128C>T (p.Phe376=) rs1417388410
NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser) rs2544383722
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys) rs377129275
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys) rs2051758116
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys) rs201088847
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser) rs200461412
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro) rs202002431
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu) rs202002431
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr) rs1567625134
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg) rs2051759512
NM_016373.4(WWOX):c.1152C>G (p.Pro384=) rs2051759603
NM_016373.4(WWOX):c.1155A>C (p.Ser385=) rs1414101968
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser) rs1308501987
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu) rs1351213477
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro) rs1060502729
NM_016373.4(WWOX):c.1164T>G (p.Ala388=)
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys) rs375757102
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln) rs375757102
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val) rs1287638259
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp) rs763482100
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg) rs139253468
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs) rs1064792969
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr) rs767286260
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly) rs750042007
NM_016373.4(WWOX):c.1185G>C (p.Arg395=) rs1296581246
NM_016373.4(WWOX):c.1190T>G (p.Leu397Arg)
NM_016373.4(WWOX):c.1191G>C (p.Leu397=) rs749223740
NM_016373.4(WWOX):c.1197G>T (p.Ala399=) rs376935572
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg) rs201428060
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys) rs200839945
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln) rs200839945
NM_016373.4(WWOX):c.1206G>A (p.Glu402=) rs923748427
NM_016373.4(WWOX):c.1209G>A (p.Arg403=) rs764726398
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu) rs1197462916
NM_016373.4(WWOX):c.1218A>C (p.Gln406His) rs767985798
NM_016373.4(WWOX):c.1218A>G (p.Gln406=) rs767985798
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) rs765857107
NM_016373.4(WWOX):c.1230C>A (p.Gly410=) rs778834456
NM_016373.4(WWOX):c.1230C>G (p.Gly410=) rs778834456
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr) rs1297812511
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) rs117065412
NM_016373.4(WWOX):c.1239C>G (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del) rs2051765287
NM_016373.4(WWOX):c.1242C>T (p.Gly414=) rs557367276
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?) rs2544385035
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser) rs2150868322
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr) rs2544385063

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