List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2Y

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 133

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HGVS	dbSNP	gnomAD frequency
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)	rs146976883	0.00233
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn)	rs149690630	0.00215
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)	rs139690983	0.00054
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.361G>A (p.Glu121Lys)	rs199933063	0.00015
NM_015602.4(TOR1AIP1):c.1614C>A (p.Val538=)	rs369998144	0.00011
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=)	rs763572841	0.00006
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.252A>T (p.Arg84=)	rs140133465	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.243G>C (p.Val81=)	rs780446434	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.156G>A (p.Gln52=)	rs1299122146	0.00001
NM_015602.4(TOR1AIP1):c.1749A>G (p.Leu583=)	rs200313537	0.00001
NM_015602.4(TOR1AIP1):c.192A>G (p.Pro64=)	rs372246976	0.00001
NM_015602.4(TOR1AIP1):c.459C>T (p.Asp153=)	rs747268474	0.00001
NM_015602.4(TOR1AIP1):c.471T>C (p.Ser157=)	rs765595065	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.114C>T (p.Gly38=)
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.126G>A (p.Ala42=)
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.141T>A (p.Thr47=)
NM_015602.4(TOR1AIP1):c.147G>A (p.Pro49=)
NM_015602.4(TOR1AIP1):c.159C>G (p.Gly53=)	rs1283793684
NM_015602.4(TOR1AIP1):c.15G>A (p.Gly5=)
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.183C>T (p.Asp61=)
NM_015602.4(TOR1AIP1):c.246A>T (p.Gly82=)	rs1289941681
NM_015602.4(TOR1AIP1):c.24A>G (p.Ala8=)	rs1571718503
NM_015602.4(TOR1AIP1):c.259C>T (p.Leu87=)
NM_015602.4(TOR1AIP1):c.261A>G (p.Leu87=)
NM_015602.4(TOR1AIP1):c.267G>A (p.Glu89=)	rs1447571663
NM_015602.4(TOR1AIP1):c.273G>C (p.Arg91=)
NM_015602.4(TOR1AIP1):c.276C>T (p.Ser92=)
NM_015602.4(TOR1AIP1):c.27G>A (p.Glu9=)	rs1571718505
NM_015602.4(TOR1AIP1):c.285G>A (p.Ala95=)	rs1039646770
NM_015602.4(TOR1AIP1):c.30G>T (p.Ala10=)	rs376731014
NM_015602.4(TOR1AIP1):c.351G>A (p.Gln117=)	rs762074035
NM_015602.4(TOR1AIP1):c.357C>G (p.Thr119=)	rs1366999572
NM_015602.4(TOR1AIP1):c.360G>A (p.Glu120=)
NM_015602.4(TOR1AIP1):c.399G>A (p.Gln133=)
NM_015602.4(TOR1AIP1):c.408G>A (p.Glu136=)
NM_015602.4(TOR1AIP1):c.411G>A (p.Gln137=)
NM_015602.4(TOR1AIP1):c.426G>T (p.Pro142=)
NM_015602.4(TOR1AIP1):c.444G>A (p.Arg148=)
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.63C>T (p.Pro21=)
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.81G>A (p.Glu27=)
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.87G>A (p.Arg29=)
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.90C>A (p.Gly30=)	rs748169407
NM_015602.4(TOR1AIP1):c.93G>A (p.Arg31=)
NM_015602.4(TOR1AIP1):c.93G>C (p.Arg31=)
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
NM_015602.4(TOR1AIP1):c.99C>T (p.Ala33=)	rs1647743624

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