ClinVar Miner

List of variants reported as likely benign for autosomal recessive spinocerebellar ataxia 12

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 303
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) rs139253468 0.00081
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met) rs201616456 0.00076
NM_016373.4(WWOX):c.605+9T>A rs368853054 0.00069
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_016373.4(WWOX):c.957C>T (p.Asn319=) rs144417100 0.00054
NM_016373.4(WWOX):c.60G>C (p.Pro20=) rs376165565 0.00051
NM_016373.4(WWOX):c.517-12C>T rs373188700 0.00047
NM_016373.4(WWOX):c.1203C>T (p.Ser401=) rs201428060 0.00046
NM_016373.4(WWOX):c.173-11T>C rs370729028 0.00039
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) rs202002431 0.00029
NM_016373.4(WWOX):c.552C>T (p.Leu184=) rs199715254 0.00029
NM_016373.4(WWOX):c.723G>A (p.Gln241=) rs191029309 0.00019
NM_016373.4(WWOX):c.1179G>A (p.Thr393=) rs376293017 0.00018
NM_016373.4(WWOX):c.420C>T (p.Thr140=) rs374644172 0.00011
NM_016373.4(WWOX):c.786C>T (p.Ser262=) rs376709568 0.00011
NM_016373.4(WWOX):c.1170C>T (p.Ser390=) rs372635911 0.00010
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=) rs372703745 0.00007
NM_016373.4(WWOX):c.951G>A (p.Thr317=) rs759801417 0.00007
NM_016373.4(WWOX):c.840C>G (p.Leu280=) rs772356641 0.00006
NM_016373.4(WWOX):c.1077C>T (p.Thr359=) rs150912992 0.00005
NM_016373.4(WWOX):c.231-9T>C rs766689304 0.00005
NM_016373.4(WWOX):c.315A>G (p.Gln105=) rs752822745 0.00005
NM_016373.4(WWOX):c.324C>T (p.Asp108=) rs377442022 0.00005
NM_016373.4(WWOX):c.630C>T (p.Asn210=) rs547619401 0.00005
NM_016373.4(WWOX):c.867G>A (p.Ala289=) rs755002954 0.00005
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) rs780939546 0.00004
NM_016373.4(WWOX):c.114C>T (p.Thr38=) rs372635270 0.00004
NM_016373.4(WWOX):c.231-11C>G rs372011945 0.00004
NM_016373.4(WWOX):c.321C>T (p.Tyr107=) rs373306276 0.00004
NM_016373.4(WWOX):c.517-10C>G rs199820033 0.00004
NM_016373.4(WWOX):c.605+20G>A rs372217196 0.00004
NM_016373.4(WWOX):c.739T>C (p.Leu247=) rs1195368309 0.00004
NM_016373.4(WWOX):c.798A>C (p.Thr266=) rs377727422 0.00004
NM_016373.4(WWOX):c.855C>T (p.Asn285=) rs767903006 0.00004
NM_016373.4(WWOX):c.1029C>G (p.Thr343=) rs752273047 0.00003
NM_016373.4(WWOX):c.606-9A>G rs370129950 0.00003
NM_016373.4(WWOX):c.636A>C (p.Ala212=) rs1201180702 0.00003
NM_016373.4(WWOX):c.912C>T (p.Ser304=) rs745464578 0.00003
NM_016373.4(WWOX):c.1057-4C>T rs555716977 0.00002
NM_016373.4(WWOX):c.172+19A>G rs1198975338 0.00002
NM_016373.4(WWOX):c.183C>T (p.Tyr61=) rs759766243 0.00002
NM_016373.4(WWOX):c.210C>T (p.Asn70=) rs762102064 0.00002
NM_016373.4(WWOX):c.414C>T (p.Phe138=) rs767693780 0.00002
NM_016373.4(WWOX):c.453G>A (p.Val151=) rs375649496 0.00002
NM_016373.4(WWOX):c.555T>C (p.Ala185=) rs748722105 0.00002
NM_016373.4(WWOX):c.651C>G (p.Pro217=) rs746893085 0.00002
NM_016373.4(WWOX):c.791+14G>A rs753689854 0.00002
NM_016373.4(WWOX):c.792-6T>G rs771690273 0.00002
NM_016373.4(WWOX):c.792-9A>G rs376320385 0.00002
NM_016373.4(WWOX):c.836G>A (p.Arg279His) rs748534396 0.00002
NM_016373.4(WWOX):c.933C>G (p.Leu311=) rs757508300 0.00002
NM_016373.4(WWOX):c.942C>T (p.Arg314=) rs568012503 0.00002
NM_016373.4(WWOX):c.1057-18T>G rs780546419 0.00001
NM_016373.4(WWOX):c.107+12G>T rs753626622 0.00001
NM_016373.4(WWOX):c.107+16T>G rs1313734754 0.00001
NM_016373.4(WWOX):c.1107G>A (p.Glu369=) rs369673368 0.00001
NM_016373.4(WWOX):c.1143C>T (p.Arg381=) rs1427739406 0.00001
NM_016373.4(WWOX):c.1158A>G (p.Pro386=) rs755586346 0.00001
NM_016373.4(WWOX):c.117G>A (p.Glu39=) rs368245025 0.00001
NM_016373.4(WWOX):c.1227T>C (p.Leu409=) rs1370851633 0.00001
NM_016373.4(WWOX):c.172+7A>G rs1307853735 0.00001
NM_016373.4(WWOX):c.173-9G>A rs768579025 0.00001
NM_016373.4(WWOX):c.216A>G (p.Gln72=) rs754962104 0.00001
NM_016373.4(WWOX):c.222T>C (p.Phe74=) rs748079925 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.231-20C>G rs768620458 0.00001
NM_016373.4(WWOX):c.231-6G>T rs987981847 0.00001
NM_016373.4(WWOX):c.24G>A (p.Gly8=) rs960284644 0.00001
NM_016373.4(WWOX):c.273G>A (p.Ala91=) rs778288592 0.00001
NM_016373.4(WWOX):c.303A>G (p.Pro101=) rs761783544 0.00001
NM_016373.4(WWOX):c.372C>A (p.Gly124=) rs1427515892 0.00001
NM_016373.4(WWOX):c.410-19A>G rs201778955 0.00001
NM_016373.4(WWOX):c.567C>T (p.Ser189=) rs201593515 0.00001
NM_016373.4(WWOX):c.579T>C (p.Phe193=) rs554077107 0.00001
NM_016373.4(WWOX):c.605+10C>G rs201186695 0.00001
NM_016373.4(WWOX):c.605+11C>T rs1271857180 0.00001
NM_016373.4(WWOX):c.605+19G>A rs199843934 0.00001
NM_016373.4(WWOX):c.678G>A (p.Glu226=) rs750905852 0.00001
NM_016373.4(WWOX):c.78C>T (p.Thr26=) rs761493229 0.00001
NM_016373.4(WWOX):c.791+11A>G rs779754174 0.00001
NM_016373.4(WWOX):c.843T>A (p.Ser281=) rs367855242 0.00001
NM_016373.4(WWOX):c.866C>T (p.Ala289Val) rs753894507 0.00001
NM_016373.4(WWOX):c.906C>T (p.Leu302=) rs377404672 0.00001
NM_016373.4(WWOX):c.945G>A (p.Gly315=) rs1232491002 0.00001
NM_016373.4(WWOX):c.948C>G (p.Val316=) rs201986739 0.00001
NM_016373.4(WWOX):c.954G>A (p.Ser318=) rs971458936 0.00001
NM_016373.4(WWOX):c.999C>T (p.Arg333=) rs774462234 0.00001
NM_016373.4(WWOX):c.99C>T (p.Tyr33=) rs760762887 0.00001
NM_016373.4(WWOX):c.9G>C (p.Ala3=) rs778036247 0.00001
NM_016373.4(WWOX):c.1011G>C (p.Val337=) rs773816992
NM_016373.4(WWOX):c.1021C>T (p.Leu341=) rs201616456
NM_016373.4(WWOX):c.1023G>C (p.Leu341=)
NM_016373.4(WWOX):c.102C>T (p.Tyr34=)
NM_016373.4(WWOX):c.1047C>A (p.Thr349=) rs940453353
NM_016373.4(WWOX):c.1050G>A (p.Lys350=) rs2151386362
NM_016373.4(WWOX):c.1056+13C>A
NM_016373.4(WWOX):c.1056+18G>A
NM_016373.4(WWOX):c.1056+20C>T
NM_016373.4(WWOX):c.1056+7_1056+9del
NM_016373.4(WWOX):c.1057-10G>C
NM_016373.4(WWOX):c.1057-13_1057-11del
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC
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
NM_016373.4(WWOX):c.1057-22_1057-19del
NM_016373.4(WWOX):c.1057-22_1057-20del rs2150867224
NM_016373.4(WWOX):c.1057-7T>C
NM_016373.4(WWOX):c.1057-9G>C
NM_016373.4(WWOX):c.1057-9_1057-6dup rs2150867300
NM_016373.4(WWOX):c.107+10C>G
NM_016373.4(WWOX):c.107+10C>T
NM_016373.4(WWOX):c.107+12G>C
NM_016373.4(WWOX):c.107+13C>T
NM_016373.4(WWOX):c.107+15G>A
NM_016373.4(WWOX):c.107+17G>C
NM_016373.4(WWOX):c.1077C>G (p.Thr359=) rs150912992
NM_016373.4(WWOX):c.108-12G>C
NM_016373.4(WWOX):c.108-12_108-11del rs756598479
NM_016373.4(WWOX):c.108-12_108-6del
NM_016373.4(WWOX):c.108-14T>C
NM_016373.4(WWOX):c.108-19A>T
NM_016373.4(WWOX):c.108-20G>A rs760210735
NM_016373.4(WWOX):c.108-7T>C rs2151665632
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)
NM_016373.4(WWOX):c.1086T>C (p.Cys362=) rs755448649
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)
NM_016373.4(WWOX):c.1110T>A (p.Gly370=) rs901897952
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)
NM_016373.4(WWOX):c.1113G>A (p.Leu371=)
NM_016373.4(WWOX):c.1113G>T (p.Leu371=) rs2150867604
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)
NM_016373.4(WWOX):c.1128C>T (p.Phe376=) rs1417388410
NM_016373.4(WWOX):c.1155A>C (p.Ser385=) rs1414101968
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)
NM_016373.4(WWOX):c.1185G>C (p.Arg395=) rs1296581246
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) rs923268639
NM_016373.4(WWOX):c.1189C>T (p.Leu397=)
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.1206G>A (p.Glu402=) rs923748427
NM_016373.4(WWOX):c.1209G>A (p.Arg403=) rs764726398
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)
NM_016373.4(WWOX):c.1230C>A (p.Gly410=)
NM_016373.4(WWOX):c.1230C>G (p.Gly410=) rs778834456
NM_016373.4(WWOX):c.1236G>A (p.Gln412=)
NM_016373.4(WWOX):c.1239C>G (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.1242C>T (p.Gly414=) rs557367276
NM_016373.4(WWOX):c.12G>A (p.Leu4=) rs2151651643
NM_016373.4(WWOX):c.138T>C (p.His46=)
NM_016373.4(WWOX):c.160C>A (p.Arg54=) rs587777248
NM_016373.4(WWOX):c.165G>A (p.Val55=)
NM_016373.4(WWOX):c.172+10T>A rs2032295814
NM_016373.4(WWOX):c.172+15G>T
NM_016373.4(WWOX):c.172+17C>G
NM_016373.4(WWOX):c.172+9G>A rs1220647416
NM_016373.4(WWOX):c.173-10T>G rs960259890
NM_016373.4(WWOX):c.173-12C>G
NM_016373.4(WWOX):c.173-14T>G
NM_016373.4(WWOX):c.173-20C>G
NM_016373.4(WWOX):c.173-4T>G
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)
NM_016373.4(WWOX):c.228T>A (p.Val76=) rs370579498
NM_016373.4(WWOX):c.230+9C>T rs1254974575
NM_016373.4(WWOX):c.231-10T>C
NM_016373.4(WWOX):c.231-16T>C rs376333974
NM_016373.4(WWOX):c.231-17C>A rs372361154
NM_016373.4(WWOX):c.231-17C>T
NM_016373.4(WWOX):c.231-18G>T
NM_016373.4(WWOX):c.231-7T>C
NM_016373.4(WWOX):c.231-8T>G rs776271651
NM_016373.4(WWOX):c.240T>C (p.Asn80=)
NM_016373.4(WWOX):c.252C>T (p.Thr84=)
NM_016373.4(WWOX):c.261C>T (p.Asp87=)
NM_016373.4(WWOX):c.276T>C (p.Phe92=)
NM_016373.4(WWOX):c.294G>A (p.Pro98=)
NM_016373.4(WWOX):c.294G>C (p.Pro98=) rs200208343
NM_016373.4(WWOX):c.306C>T (p.Thr102=)
NM_016373.4(WWOX):c.30C>T (p.Asp10=) rs373146723
NM_016373.4(WWOX):c.310C>A (p.Arg104=) rs750226191
NM_016373.4(WWOX):c.333C>T (p.Thr111=)
NM_016373.4(WWOX):c.360G>A (p.Arg120=)
NM_016373.4(WWOX):c.36G>A (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>C (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>T (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.375A>G (p.Lys125=)
NM_016373.4(WWOX):c.409+10T>C rs2151674977
NM_016373.4(WWOX):c.409+16A>G rs12934985
NM_016373.4(WWOX):c.409+16A>T rs12934985
NM_016373.4(WWOX):c.409+16_409+17delinsCA rs2151674999
NM_016373.4(WWOX):c.409+17G>T rs771445250
NM_016373.4(WWOX):c.409+8C>G
NM_016373.4(WWOX):c.410-14C>T
NM_016373.4(WWOX):c.410-15T>A
NM_016373.4(WWOX):c.410-4A>G rs183410581
NM_016373.4(WWOX):c.410-6C>T rs1488901499
NM_016373.4(WWOX):c.411G>T (p.Gly137=) rs1172090882
NM_016373.4(WWOX):c.423C>G (p.Ala141=)
NM_016373.4(WWOX):c.459G>A (p.Leu153=)
NM_016373.4(WWOX):c.45G>A (p.Glu15=) rs770319919
NM_016373.4(WWOX):c.462C>G (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.462C>T (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.468G>A (p.Arg156=)
NM_016373.4(WWOX):c.477A>T (p.Ala159=)
NM_016373.4(WWOX):c.480G>A (p.Arg160=) rs919851150
NM_016373.4(WWOX):c.483G>A (p.Ala161=) rs143067173
NM_016373.4(WWOX):c.495G>C (p.Val165=)
NM_016373.4(WWOX):c.498A>G (p.Ser166=)
NM_016373.4(WWOX):c.516+12A>G
NM_016373.4(WWOX):c.516+14T>A rs779863445
NM_016373.4(WWOX):c.516+14TGT[2] rs757933432
NM_016373.4(WWOX):c.516+16T>C
NM_016373.4(WWOX):c.516+19T>A rs2034899735
NM_016373.4(WWOX):c.516+6_516+7delinsCT rs2151735603
NM_016373.4(WWOX):c.517-10C>T
NM_016373.4(WWOX):c.517-11T>C rs2151934076
NM_016373.4(WWOX):c.517-12C>A rs373188700
NM_016373.4(WWOX):c.517-19T>C rs1057518552
NM_016373.4(WWOX):c.517-20T>C rs2151934070
NM_016373.4(WWOX):c.517-4G>A
NM_016373.4(WWOX):c.517-4G>C
NM_016373.4(WWOX):c.517-6T>C
NM_016373.4(WWOX):c.517-8C>T
NM_016373.4(WWOX):c.517-9T>C
NM_016373.4(WWOX):c.531A>G (p.Val177=) rs1451196383
NM_016373.4(WWOX):c.543C>G (p.Thr181=)
NM_016373.4(WWOX):c.552C>G (p.Leu184=) rs199715254
NM_016373.4(WWOX):c.555T>A (p.Ala185=) rs748722105
NM_016373.4(WWOX):c.556C>T (p.Leu186=) rs772539448
NM_016373.4(WWOX):c.558G>A (p.Leu186=) rs1464156122
NM_016373.4(WWOX):c.564T>C (p.Arg188=)
NM_016373.4(WWOX):c.588A>C (p.Ala196=)
NM_016373.4(WWOX):c.588A>G (p.Ala196=)
NM_016373.4(WWOX):c.605+10C>A rs201186695
NM_016373.4(WWOX):c.605+12A>T
NM_016373.4(WWOX):c.605+13G>A
NM_016373.4(WWOX):c.605+18G>A
NM_016373.4(WWOX):c.605+7G>A rs900076277
NM_016373.4(WWOX):c.605+7G>C
NM_016373.4(WWOX):c.605+9T>G
NM_016373.4(WWOX):c.606-14A>G
NM_016373.4(WWOX):c.618G>C (p.Val206=) rs376279847
NM_016373.4(WWOX):c.624G>T (p.Val208=)
NM_016373.4(WWOX):c.633A>G (p.Ala211=) rs1597215838
NM_016373.4(WWOX):c.63C>T (p.Gly21=)
NM_016373.4(WWOX):c.645T>C (p.Ala215=)
NM_016373.4(WWOX):c.672C>G (p.Gly224=)
NM_016373.4(WWOX):c.681C>T (p.Thr227=)
NM_016373.4(WWOX):c.684C>G (p.Thr228=)
NM_016373.4(WWOX):c.690A>G (p.Gln230=) rs372408512
NM_016373.4(WWOX):c.717T>A (p.Leu239=)
NM_016373.4(WWOX):c.729C>G (p.Leu243=) rs2083042980
NM_016373.4(WWOX):c.72G>A (p.Glu24=) rs1255601873
NM_016373.4(WWOX):c.744C>T (p.Cys248=) rs1597216164
NM_016373.4(WWOX):c.759C>A (p.Ala253=) rs1363794629
NM_016373.4(WWOX):c.765C>A (p.Val255=) rs1232507130
NM_016373.4(WWOX):c.765C>G (p.Val255=)
NM_016373.4(WWOX):c.774C>G (p.Val258=) rs1597216285
NM_016373.4(WWOX):c.780A>G (p.Ser260=) rs2083044569
NM_016373.4(WWOX):c.789T>C (p.His263=) rs2083044812
NM_016373.4(WWOX):c.791+15C>A
NM_016373.4(WWOX):c.791+15C>T
NM_016373.4(WWOX):c.791+16A>G rs2083045240
NM_016373.4(WWOX):c.791+20T>C
NM_016373.4(WWOX):c.792-15T>C rs769065057
NM_016373.4(WWOX):c.792-16A>G
NM_016373.4(WWOX):c.792-20T>C rs2151385825
NM_016373.4(WWOX):c.798A>G (p.Thr266=) rs377727422
NM_016373.4(WWOX):c.813C>G (p.Ser271=)
NM_016373.4(WWOX):c.813C>T (p.Ser271=)
NM_016373.4(WWOX):c.81C>A (p.Thr27=)
NM_016373.4(WWOX):c.823C>T (p.Leu275=) rs1272996029
NM_016373.4(WWOX):c.825G>T (p.Leu275=)
NM_016373.4(WWOX):c.840C>T (p.Leu280=)
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)
NM_016373.4(WWOX):c.867G>C (p.Ala289=) rs755002954
NM_016373.4(WWOX):c.871C>T (p.Leu291=) rs1230337512
NM_016373.4(WWOX):c.873G>A (p.Leu291=)
NM_016373.4(WWOX):c.891G>A (p.Lys297=)
NM_016373.4(WWOX):c.903C>T (p.Ile301=)
NM_016373.4(WWOX):c.909C>T (p.Phe303=)
NM_016373.4(WWOX):c.90C>T (p.Gly30=) rs772839022
NM_016373.4(WWOX):c.912C>G (p.Ser304=)
NM_016373.4(WWOX):c.915C>T (p.Asn305=) rs201818301
NM_016373.4(WWOX):c.918G>A (p.Glu306=) rs2151386096
NM_016373.4(WWOX):c.919C>T (p.Leu307=) rs200320711
NM_016373.4(WWOX):c.921G>T (p.Leu307=)
NM_016373.4(WWOX):c.924C>T (p.His308=)
NM_016373.4(WWOX):c.933C>A (p.Leu311=)
NM_016373.4(WWOX):c.936C>T (p.Ser312=) rs2151386149
NM_016373.4(WWOX):c.942C>G (p.Arg314=)
NM_016373.4(WWOX):c.945G>T (p.Gly315=) rs1232491002
NM_016373.4(WWOX):c.954G>C (p.Ser318=)
NM_016373.4(WWOX):c.963G>A (p.Val321=)
NM_016373.4(WWOX):c.969T>C (p.Pro323=)
NM_016373.4(WWOX):c.972A>C (p.Gly324=)
NM_016373.4(WWOX):c.990C>T (p.Asn330=) rs117209694
NM_016373.4(WWOX):c.993T>A (p.Ile331=)
NM_016373.4(WWOX):c.9G>A (p.Ala3=)

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.