ClinVar Miner

List of variants in gene TOR1AIP1 reported as likely benign for limb-girdle muscular dystrophy

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn) rs149690630 0.00215
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
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.1329G>T (p.Arg443=) rs147566573 0.00016
NM_015602.4(TOR1AIP1):c.1614C>A (p.Val538=) rs369998144 0.00011
NM_015602.4(TOR1AIP1):c.1098A>G (p.Gln366=) rs139032980 0.00004
NM_015602.4(TOR1AIP1):c.1455C>T (p.Pro485=) rs750693473 0.00004
NM_015602.4(TOR1AIP1):c.621T>C (p.Ser207=) rs765405746 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.919C>T (p.Leu307=) rs1037138752 0.00003
NM_015602.4(TOR1AIP1):c.1155G>A (p.Lys385=) rs777945456 0.00002
NM_015602.4(TOR1AIP1):c.493C>G (p.Gln165Glu) rs142574917 0.00002
NM_015602.4(TOR1AIP1):c.1074T>A (p.Pro358=) rs753180473 0.00001
NM_015602.4(TOR1AIP1):c.1200C>T (p.Ser400=) rs766692812 0.00001
NM_015602.4(TOR1AIP1):c.1260A>G (p.Glu420=) rs1290274195 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.600C>T (p.Tyr200=) rs754181614 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.765A>G (p.Gln255=) rs1267582449 0.00001
NM_015602.4(TOR1AIP1):c.768T>C (p.Tyr256=) rs769611384 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.1020A>G (p.Leu340=)
NM_015602.4(TOR1AIP1):c.1044C>G (p.Ala348=)
NM_015602.4(TOR1AIP1):c.1062C>T (p.Phe354=)
NM_015602.4(TOR1AIP1):c.1065T>C (p.Phe355=)
NM_015602.4(TOR1AIP1):c.1173A>G (p.Gln391=)
NM_015602.4(TOR1AIP1):c.1197T>C (p.Asn399=)
NM_015602.4(TOR1AIP1):c.1248A>C (p.Arg416=)
NM_015602.4(TOR1AIP1):c.1323C>T (p.Ala441=)
NM_015602.4(TOR1AIP1):c.1332T>C (p.Ile444=) rs2148484230
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.1677C>T (p.Gly559=)
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.1743C>A (p.Ile581=)
NM_015602.4(TOR1AIP1):c.476-20T>G
NM_015602.4(TOR1AIP1):c.476-20_476-19del
NM_015602.4(TOR1AIP1):c.476-9_476-8del
NM_015602.4(TOR1AIP1):c.480T>C (p.Asp160=) rs1571720833
NM_015602.4(TOR1AIP1):c.525A>G (p.Lys175=) rs2148469973
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.553+10G>C
NM_015602.4(TOR1AIP1):c.553+14A>G
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.570A>G (p.Val190=)
NM_015602.4(TOR1AIP1):c.610+13_610+16del rs768607346
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.633G>A (p.Lys211=)
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.739+17T>C
NM_015602.4(TOR1AIP1):c.739+19C>T rs1224167074
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.780T>C (p.Phe260=)
NM_015602.4(TOR1AIP1):c.797-20A>C
NM_015602.4(TOR1AIP1):c.838+11G>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.894G>A (p.Arg298=)
NM_015602.4(TOR1AIP1):c.900G>A (p.Arg300=)
NM_015602.4(TOR1AIP1):c.908-5A>G
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955
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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