ClinVar Miner

List of variants in gene combination MAF, WWOX reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser) rs201606637 0.00036
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) rs200815431 0.00032
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) rs369959670 0.00025
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.1145G>A (p.Cys382Tyr) rs199585408 0.00006
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln) rs373148311 0.00004
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr) rs767667847 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.1085G>A (p.Cys362Tyr) rs778218106 0.00001
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly) rs2051755192 0.00001
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser) rs770628801 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.1150C>T (p.Pro384Ser) rs544760115 0.00001
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly) rs1316600993 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.1057-2A>G rs1233583078
NM_016373.4(WWOX):c.1057-3C>T rs143302415
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)
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.1073C>T (p.Thr358Ile) rs1555547940
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg) rs2051754918
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp) rs780816542
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg) 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.1130A>G (p.Asn377Ser)
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.1156C>T (p.Pro386Ser)
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.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)
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.1203C>G (p.Ser401Arg)
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.1216C>G (p.Gln406Glu) rs1197462916
NM_016373.4(WWOX):c.1218A>C (p.Gln406His) 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.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) rs117065412
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del) rs2051765287
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser) rs2150868322
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)

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