ClinVar Miner

List of variants in gene TOR1AIP1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=) rs627897 0.93133
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg) rs609521 0.54825
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His) rs17279712 0.05445
NM_015602.4(TOR1AIP1):c.964+17A>G rs17370826 0.05277
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=) rs115742637 0.01001
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn) rs149690630 0.00215
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=) rs146164995 0.00116
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
NM_015602.4(TOR1AIP1):c.948A>G (p.Pro316=) rs573163000 0.00040
NM_015602.4(TOR1AIP1):c.554-23G>A rs374091003 0.00037
NM_015602.4(TOR1AIP1):c.965-10del rs769057969 0.00035
NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys) rs534816625 0.00018
NM_015602.4(TOR1AIP1):c.1329G>T (p.Arg443=) rs147566573 0.00016
NM_015602.4(TOR1AIP1):c.838+3A>G rs139072070 0.00015
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His) rs139364730 0.00011
NM_015602.4(TOR1AIP1):c.1614C>A (p.Val538=) rs369998144 0.00011
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His) rs145065164 0.00009
NM_015602.4(TOR1AIP1):c.1381G>T (p.Val461Leu) rs368563369 0.00008
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys) rs377110579 0.00008
NM_015602.4(TOR1AIP1):c.808A>G (p.Thr270Ala) rs780046037 0.00008
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His) rs745350340 0.00007
NM_015602.4(TOR1AIP1):c.512C>T (p.Thr171Met) rs150816990 0.00007
NM_015602.4(TOR1AIP1):c.1210C>T (p.Arg404Trp) rs541059100 0.00006
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val) rs201518227 0.00006
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser) rs200495464 0.00005
NM_015602.4(TOR1AIP1):c.1098A>G (p.Gln366=) rs139032980 0.00004
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg) rs374418323 0.00004
NM_015602.4(TOR1AIP1):c.1455C>T (p.Pro485=) rs750693473 0.00004
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr) rs138345857 0.00004
NM_015602.4(TOR1AIP1):c.619A>G (p.Ser207Gly) rs759786680 0.00004
NM_015602.4(TOR1AIP1):c.621T>C (p.Ser207=) rs765405746 0.00004
NM_015602.4(TOR1AIP1):c.944C>T (p.Ser315Leu) rs201979642 0.00004
NM_015602.4(TOR1AIP1):c.983A>G (p.Gln328Arg) rs748527858 0.00004
NM_015602.4(TOR1AIP1):c.1254T>C (p.Ala418=) rs778246364 0.00003
NM_015602.4(TOR1AIP1):c.1617G>A (p.Lys539=) rs188831879 0.00003
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp) rs756853004 0.00003
NM_015602.4(TOR1AIP1):c.554-1G>A rs200993053 0.00003
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile) rs767019881 0.00003
NM_015602.4(TOR1AIP1):c.919C>T (p.Leu307=) rs1037138752 0.00003
NM_015602.4(TOR1AIP1):c.1155G>A (p.Lys385=) rs777945456 0.00002
NM_015602.4(TOR1AIP1):c.1298A>G (p.Tyr433Cys) rs201975339 0.00002
NM_015602.4(TOR1AIP1):c.1328G>A (p.Arg443Gln) rs148871236 0.00002
NM_015602.4(TOR1AIP1):c.493C>G (p.Gln165Glu) rs142574917 0.00002
NM_015602.4(TOR1AIP1):c.796+5G>A rs774612888 0.00002
NM_015602.4(TOR1AIP1):c.884C>T (p.Ala295Val) rs147648930 0.00002
NM_015602.4(TOR1AIP1):c.1010G>A (p.Arg337Gln) rs576474780 0.00001
NM_015602.4(TOR1AIP1):c.1012T>C (p.Trp338Arg) rs769461759 0.00001
NM_015602.4(TOR1AIP1):c.1074T>A (p.Pro358=) rs753180473 0.00001
NM_015602.4(TOR1AIP1):c.1163A>C (p.Lys388Thr) rs367617812 0.00001
NM_015602.4(TOR1AIP1):c.1200C>T (p.Ser400=) rs766692812 0.00001
NM_015602.4(TOR1AIP1):c.1241C>G (p.Ala414Gly) rs757678339 0.00001
NM_015602.4(TOR1AIP1):c.1260A>G (p.Glu420=) rs1290274195 0.00001
NM_015602.4(TOR1AIP1):c.1282C>G (p.Gln428Glu) rs772076024 0.00001
NM_015602.4(TOR1AIP1):c.1327C>T (p.Arg443Trp) rs763037095 0.00001
NM_015602.4(TOR1AIP1):c.1465A>G (p.Thr489Ala) rs375127929 0.00001
NM_015602.4(TOR1AIP1):c.1711G>T (p.Val571Leu) rs908965605 0.00001
NM_015602.4(TOR1AIP1):c.1749A>G (p.Leu583=) rs200313537 0.00001
NM_015602.4(TOR1AIP1):c.519A>G (p.Ser173=) rs1458152047 0.00001
NM_015602.4(TOR1AIP1):c.537C>T (p.Ser179=) rs764887380 0.00001
NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=) rs150530440 0.00001
NM_015602.4(TOR1AIP1):c.553+10G>A rs1397979237 0.00001
NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=) rs769367527 0.00001
NM_015602.4(TOR1AIP1):c.581G>A (p.Arg194His) rs761858266 0.00001
NM_015602.4(TOR1AIP1):c.600C>T (p.Tyr200=) rs754181614 0.00001
NM_015602.4(TOR1AIP1):c.611-10T>A rs1425465064 0.00001
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter) rs778326858 0.00001
NM_015602.4(TOR1AIP1):c.678C>T (p.Asp226=) rs747798408 0.00001
NM_015602.4(TOR1AIP1):c.696C>G (p.Val232=) rs570033626 0.00001
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu) rs1198939008 0.00001
NM_015602.4(TOR1AIP1):c.765A>G (p.Gln255=) rs1267582449 0.00001
NM_015602.4(TOR1AIP1):c.768T>C (p.Tyr256=) rs769611384 0.00001
NM_015602.4(TOR1AIP1):c.794A>G (p.Gln265Arg) rs768807943 0.00001
NM_015602.4(TOR1AIP1):c.825A>G (p.Gln275=) rs760875856 0.00001
NM_015602.4(TOR1AIP1):c.864G>A (p.Gln288=) rs765961500 0.00001
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp) rs770895707 0.00001
NM_015602.4(TOR1AIP1):c.962G>A (p.Arg321Gln) rs1045988718 0.00001
NM_015602.4(TOR1AIP1):c.964+5G>A rs561816881 0.00001
NM_015602.4(TOR1AIP1):c.965-3T>C rs755443913 0.00001
NC_000001.10:g.(?_179876938)_(179877828_?)del
NM_015602.4(TOR1AIP1):c.1020A>G (p.Leu340=)
NM_015602.4(TOR1AIP1):c.1036G>A (p.Ala346Thr)
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)
NM_015602.4(TOR1AIP1):c.1044C>G (p.Ala348=)
NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr)
NM_015602.4(TOR1AIP1):c.1062C>T (p.Phe354=)
NM_015602.4(TOR1AIP1):c.1065T>C (p.Phe355=)
NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile)
NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser)
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
NM_015602.4(TOR1AIP1):c.1173A>G (p.Gln391=)
NM_015602.4(TOR1AIP1):c.1197T>C (p.Asn399=)
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
NM_015602.4(TOR1AIP1):c.1223C>G (p.Ala408Gly) rs1649063593
NM_015602.4(TOR1AIP1):c.1225A>G (p.Ile409Val) rs752847821
NM_015602.4(TOR1AIP1):c.1226T>G (p.Ile409Ser) rs1649063848
NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val)
NM_015602.4(TOR1AIP1):c.1248A>C (p.Arg416=)
NM_015602.4(TOR1AIP1):c.1250A>T (p.Asp417Val)
NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs)
NM_015602.4(TOR1AIP1):c.1309C>T (p.Arg437Cys) rs1649066648
NM_015602.4(TOR1AIP1):c.1313G>A (p.Ser438Asn) rs1649066917
NM_015602.4(TOR1AIP1):c.1323C>T (p.Ala441=)
NM_015602.4(TOR1AIP1):c.1330A>G (p.Ile444Val) rs1571740939
NM_015602.4(TOR1AIP1):c.1332T>C (p.Ile444=) rs2148484230
NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val)
NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu)
NM_015602.4(TOR1AIP1):c.1356A>G (p.Gln452=) rs2148484242
NM_015602.4(TOR1AIP1):c.1389A>G (p.Gln463=)
NM_015602.4(TOR1AIP1):c.1410G>A (p.Lys470=) rs1330669600
NM_015602.4(TOR1AIP1):c.1416C>A (p.Gly472=) rs1649072423
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
NM_015602.4(TOR1AIP1):c.1441T>G (p.Phe481Val) rs762266968
NM_015602.4(TOR1AIP1):c.1465A>T (p.Thr489Ser) rs375127929
NM_015602.4(TOR1AIP1):c.1471A>T (p.Ile491Phe)
NM_015602.4(TOR1AIP1):c.1477T>C (p.Tyr493His) rs1571741081
NM_015602.4(TOR1AIP1):c.1478A>G (p.Tyr493Cys) rs1571741085
NM_015602.4(TOR1AIP1):c.1495G>A (p.Glu499Lys) rs2148484301
NM_015602.4(TOR1AIP1):c.1568T>A (p.Leu523Gln) rs201388189
NM_015602.4(TOR1AIP1):c.1604T>C (p.Phe535Ser) rs1649081168
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu) rs1558048637
NM_015602.4(TOR1AIP1):c.1613T>A (p.Val538Asp) rs774345665
NM_015602.4(TOR1AIP1):c.1646A>G (p.Tyr549Cys) rs762657793
NM_015602.4(TOR1AIP1):c.1649A>G (p.Asn550Ser) rs567959058
NM_015602.4(TOR1AIP1):c.1677C>T (p.Gly559=)
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His) rs748833315
NM_015602.4(TOR1AIP1):c.1688G>T (p.Arg563Leu)
NM_015602.4(TOR1AIP1):c.1695T>C (p.Ser565=) rs1247999628
NM_015602.4(TOR1AIP1):c.1701A>G (p.Leu567=) rs768805915
NM_015602.4(TOR1AIP1):c.1705C>A (p.Leu569Met) rs2148484421
NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)
NM_015602.4(TOR1AIP1):c.1743C>A (p.Ile581=)
NM_015602.4(TOR1AIP1):c.1750T>A (p.Ter584Lys) rs1649088273
NM_015602.4(TOR1AIP1):c.476-20T>G
NM_015602.4(TOR1AIP1):c.476-20_476-19del
NM_015602.4(TOR1AIP1):c.476-3dup
NM_015602.4(TOR1AIP1):c.476-9_476-8del
NM_015602.4(TOR1AIP1):c.480T>C (p.Asp160=) rs1571720833
NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val)
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
NM_015602.4(TOR1AIP1):c.514A>G (p.Ile172Val) rs1571720874
NM_015602.4(TOR1AIP1):c.518C>T (p.Ser173Leu) rs2148469972
NM_015602.4(TOR1AIP1):c.525A>G (p.Lys175=) rs2148469973
NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser)
NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile) rs776120444
NM_015602.4(TOR1AIP1):c.531C>T (p.Val177=)
NM_015602.4(TOR1AIP1):c.540A>C (p.Ile180=)
NM_015602.4(TOR1AIP1):c.540A>T (p.Ile180=) rs752159540
NM_015602.4(TOR1AIP1):c.548C>G (p.Ala183Gly) rs1647864922
NM_015602.4(TOR1AIP1):c.553+10G>C
NM_015602.4(TOR1AIP1):c.553+14A>G
NM_015602.4(TOR1AIP1):c.553+1G>A rs1180978840
NM_015602.4(TOR1AIP1):c.553+1_553+10del rs750028739
NM_015602.4(TOR1AIP1):c.554-10A>G
NM_015602.4(TOR1AIP1):c.554-11T>G
NM_015602.4(TOR1AIP1):c.554-12del
NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC rs1647993845
NM_015602.4(TOR1AIP1):c.570A>G (p.Val190=)
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln)
NM_015602.4(TOR1AIP1):c.592C>A (p.Leu198Ile) rs1647995889
NM_015602.4(TOR1AIP1):c.609T>C (p.Tyr203=) rs200022019
NM_015602.4(TOR1AIP1):c.610+13_610+16del rs768607346
NM_015602.4(TOR1AIP1):c.610+3A>G rs1647996916
NM_015602.4(TOR1AIP1):c.610+7G>T
NM_015602.4(TOR1AIP1):c.611-16T>C
NM_015602.4(TOR1AIP1):c.611-17A>G rs1461099412
NM_015602.4(TOR1AIP1):c.611-20T>C
NM_015602.4(TOR1AIP1):c.611-8dup rs771143442
NM_015602.4(TOR1AIP1):c.633G>A (p.Lys211=)
NM_015602.4(TOR1AIP1):c.652+18A>G
NM_015602.4(TOR1AIP1):c.653-13T>A
NM_015602.4(TOR1AIP1):c.653-17T>C
NM_015602.4(TOR1AIP1):c.653-4_653-3del
NM_015602.4(TOR1AIP1):c.653-6C>A
NM_015602.4(TOR1AIP1):c.653-6C>T rs200800578
NM_015602.4(TOR1AIP1):c.653-8C>T
NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala)
NM_015602.4(TOR1AIP1):c.663AGA[1] (p.Glu222del) rs758018677
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs) rs1648457474
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
NM_015602.4(TOR1AIP1):c.676G>C (p.Asp226His) rs2148477008
NM_015602.4(TOR1AIP1):c.700A>G (p.Thr234Ala) rs2148477026
NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile)
NM_015602.4(TOR1AIP1):c.739+17T>C
NM_015602.4(TOR1AIP1):c.739+19C>T rs1224167074
NM_015602.4(TOR1AIP1):c.739+1G>A rs900977276
NM_015602.4(TOR1AIP1):c.739+7T>C rs1277758555
NM_015602.4(TOR1AIP1):c.739+9G>C
NM_015602.4(TOR1AIP1):c.750C>T (p.Thr250=)
NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly)
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter) rs1648544786
NM_015602.4(TOR1AIP1):c.769A>G (p.Ile257Val) rs775100134
NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr)
NM_015602.4(TOR1AIP1):c.780T>C (p.Phe260=)
NM_015602.4(TOR1AIP1):c.791C>T (p.Ser264Leu) rs1648545614
NM_015602.4(TOR1AIP1):c.797-20A>C
NM_015602.4(TOR1AIP1):c.797-2A>T rs756798409
NM_015602.4(TOR1AIP1):c.826_827delinsTG (p.Pro276Cys) rs2148480005
NM_015602.4(TOR1AIP1):c.827_828delinsGC (p.Pro276Arg) rs1648699740
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_015602.4(TOR1AIP1):c.838+11G>A
NM_015602.4(TOR1AIP1):c.838+2T>A
NM_015602.4(TOR1AIP1):c.839-13G>A rs1428313902
NM_015602.4(TOR1AIP1):c.839-16T>C
NM_015602.4(TOR1AIP1):c.846A>T (p.Gly282=)
NM_015602.4(TOR1AIP1):c.852A>C (p.Gln284His) rs775959429
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn) rs1558045449
NM_015602.4(TOR1AIP1):c.894G>A (p.Arg298=)
NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala)
NM_015602.4(TOR1AIP1):c.900G>A (p.Arg300=)
NM_015602.4(TOR1AIP1):c.906_907+5del rs1571735403
NM_015602.4(TOR1AIP1):c.907+1G>A
NM_015602.4(TOR1AIP1):c.907+6T>G rs1648731719
NM_015602.4(TOR1AIP1):c.908-5A>G
NM_015602.4(TOR1AIP1):c.908-7C>A rs745887150
NM_015602.4(TOR1AIP1):c.931C>G (p.Leu311Val) rs2148482585
NM_015602.4(TOR1AIP1):c.938A>G (p.Asn313Ser) rs1571738635
NM_015602.4(TOR1AIP1):c.952dup (p.Thr318fs) rs1571738652
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter) rs11581962
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955
NM_015602.4(TOR1AIP1):c.964+1G>C
NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter)
NM_015602.4(TOR1AIP1):c.965-15T>C rs1558048250
NM_015602.4(TOR1AIP1):c.990A>G (p.Ala330=) rs2148484010
NM_015602.4(TOR1AIP1):c.999C>T (p.Val333=) rs1571740598

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