ClinVar Miner

List of variants in gene LDB3 reported as uncertain significance for Myofibrillar myopathy, ZASP-related

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Gene type:
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Total variants: 91
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HGVS dbSNP
NM_001080114.1(LDB3):c.1406A>G (p.Tyr469Cys) rs199749907
NM_001080116.1(LDB3):c.*154G>A rs886047354
NM_001080116.1(LDB3):c.*19457G>A rs201063130
NM_001080116.1(LDB3):c.*248G>A rs532856980
NM_001080116.1(LDB3):c.*323C>T rs185972751
NM_001080116.1(LDB3):c.*326C>T rs886047355
NM_001080116.1(LDB3):c.*398C>G rs11594242
NM_001080116.1(LDB3):c.*450G>A rs537660741
NM_001080116.1(LDB3):c.*492C>T rs549156118
NM_001080116.1(LDB3):c.*632T>C rs886047356
NM_001080116.1(LDB3):c.-55C>A rs34972863
NM_001080116.1(LDB3):c.-81G>A rs45578532
NM_001080116.1(LDB3):c.160G>A (p.Gly54Ser) rs201786090
NM_001080116.1(LDB3):c.196C>T (p.Gln66Ter) rs1554849100
NM_001080116.1(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_001080116.1(LDB3):c.242delA (p.Gln81Argfs) rs1554849133
NM_001080116.1(LDB3):c.272C>T (p.Thr91Met) rs769237367
NM_001080116.1(LDB3):c.290A>G (p.Gln97Arg) rs762580653
NM_001080116.1(LDB3):c.30C>G (p.Pro10=) rs766817285
NM_001080116.1(LDB3):c.321+1486del rs730880345
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080116.1(LDB3):c.4T>A (p.Ser2Thr)
NM_001080116.1(LDB3):c.549-2A>G rs1060501315
NM_001080116.1(LDB3):c.582C>T (p.Ser194=) rs200580597
NM_001080116.1(LDB3):c.641A>C (p.Asp214Ala) rs1285921374
NM_001080116.1(LDB3):c.685C>T (p.Arg229Cys) rs397517226
NM_001080116.1(LDB3):c.717C>T (p.Phe239=) rs764056994
NM_001080116.1(LDB3):c.72C>A (p.Asn24Lys)
NM_001080116.1(LDB3):c.745C>T (p.Arg249Ter) rs1060501316
NM_001080116.1(LDB3):c.750G>T (p.Arg250Ser) rs374336814
NM_001080116.1(LDB3):c.770C>T (p.Thr257Met) rs375798002
NM_001080116.1(LDB3):c.772G>C (p.Glu258Gln) rs868365512
NM_001080116.1(LDB3):c.787C>T (p.Arg263Cys) rs377201153
NM_001080116.1(LDB3):c.817G>A (p.Gly273Ser) rs771037817
NM_001080116.1(LDB3):c.94-9T>C
NM_001080116.1(LDB3):c.99dup (p.Pro34Thrfs) rs1554849000
NM_001171610.1(LDB3):c.1136C>T (p.Ala379Val) rs1554860812
NM_001171610.1(LDB3):c.1304C>A (p.Thr435Asn) rs746183666
NM_001171610.1(LDB3):c.1328C>G (p.Thr443Ser) rs767914340
NM_001171610.1(LDB3):c.1336C>T (p.Pro446Ser) rs757728320
NM_001171610.1(LDB3):c.1436C>T (p.Ser479Leu) rs1011836119
NM_001171610.1(LDB3):c.1512G>T (p.Lys504Asn)
NM_001171610.1(LDB3):c.1655G>A (p.Arg552Gln) rs201968826
NM_001171610.1(LDB3):c.1804T>A (p.Tyr602Asn) rs727503131
NM_001171610.1(LDB3):c.1917C>A (p.Phe639Leu) rs773904344
NM_001171610.1(LDB3):c.2119G>T (p.Val707Leu) rs773235586
NM_001171610.1(LDB3):c.2188A>G (p.Ile730Val) rs1554870749
NM_001171610.1(LDB3):c.2189T>A (p.Ile730Asn) rs748399477
NM_001171610.1(LDB3):c.592C>T (p.Pro198Ser) rs1060501318
NM_001171610.1(LDB3):c.668C>T (p.Ser223Leu) rs375306400
NM_007078.2(LDB3):c.-23-?_93+?dup
NM_007078.2(LDB3):c.1049C>T (p.Thr350Ile) rs200796750
NM_007078.2(LDB3):c.1086-248_1231+1del
NM_007078.2(LDB3):c.1132C>T (p.Pro378Ser)
NM_007078.2(LDB3):c.1150T>A (p.Tyr384Asn) rs1554860857
NM_007078.2(LDB3):c.1225C>A (p.Gln409Lys) rs139104492
NM_007078.2(LDB3):c.1253C>G (p.Pro418Arg) rs141870580
NM_007078.2(LDB3):c.1312A>G (p.Thr438Ala)
NM_007078.2(LDB3):c.1320_1343del24 (p.Ala442_Pro449del) rs397517209
NM_007078.2(LDB3):c.1320_1343dup (p.Pro449_Val450insAlaProAlaTyrThrProSerPro) rs397517209
NM_007078.2(LDB3):c.1328C>T (p.Pro443Leu) rs1554863327
NM_007078.2(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904
NM_007078.2(LDB3):c.1442C>G (p.Pro481Arg) rs12761754
NM_007078.2(LDB3):c.1445C>T (p.Ala482Val) rs774313535
NM_007078.2(LDB3):c.1487T>C (p.Phe496Ser) rs147072071
NM_007078.2(LDB3):c.1520C>A (p.Thr507Asn)
NM_007078.2(LDB3):c.1594G>C (p.Ala532Pro) rs143764931
NM_007078.2(LDB3):c.1606G>A (p.Val536Ile) rs113817827
NM_007078.2(LDB3):c.1667A>G (p.Asn556Ser) rs372583830
NM_007078.2(LDB3):c.1675C>T (p.Arg559Trp) rs142947567
NM_007078.2(LDB3):c.1676G>A (p.Arg559Gln) rs763908636
NM_007078.2(LDB3):c.1703G>A (p.Arg568His) rs769156627
NM_007078.2(LDB3):c.1774G>C (p.Glu592Gln) rs727504944
NM_007078.2(LDB3):c.1823C>T (p.Pro608Leu) rs145983824
NM_007078.2(LDB3):c.1894A>G (p.Thr632Ala)
NM_007078.2(LDB3):c.1910C>T (p.Ala637Val) rs141569007
NM_007078.2(LDB3):c.1957G>C (p.Gly653Arg)
NM_007078.2(LDB3):c.1971C>T (p.Cys657=) rs140552419
NM_007078.2(LDB3):c.1972G>A (p.Glu658Lys)
NM_007078.2(LDB3):c.2017G>A (p.Asp673Asn) rs45514002
NM_007078.2(LDB3):c.2092G>A (p.Ala698Thr) rs45577134
NM_007078.2(LDB3):c.2123C>T (p.Pro708Leu)
NM_007078.2(LDB3):c.2124G>A (p.Pro708=) rs759812655
NM_007078.2(LDB3):c.287T>C (p.Val96Ala) rs794729056
NM_007078.2(LDB3):c.529dupG (p.Ala177Glyfs) rs730880345
NM_007078.2(LDB3):c.530C>T (p.Ala177Val) rs397517224
NM_007078.2(LDB3):c.550A>G (p.Lys184Glu) rs774886148
NM_007078.2(LDB3):c.656G>A (p.Arg219Gln) rs530979771
NM_007078.2(LDB3):c.664G>A (p.Ala222Thr) rs139922045
NM_007078.2(LDB3):c.690-4A>G rs45529531
NM_007078.2(LDB3):c.91C>T (p.Arg31Trp) rs367792378

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