ClinVar Miner

List of variants in gene LDB3 reported as likely benign for Myofibrillar myopathy, ZASP-related

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Total variants: 29
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HGVS dbSNP
NM_001080114.1(LDB3):c.1205A>C (p.Gln402Pro) rs138951890
NM_001080114.1(LDB3):c.781G>A (p.Ala261Thr) rs45539535
NM_001080116.1(LDB3):c.*156C>T rs139415121
NM_001080116.1(LDB3):c.*17293G>A rs149423035
NM_001080116.1(LDB3):c.*17374C>T rs45581435
NM_001080116.1(LDB3):c.*18610T>G rs566463138
NM_001080116.1(LDB3):c.*19482A>C rs1060504199
NM_001080116.1(LDB3):c.*678C>T rs1554857593
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080116.1(LDB3):c.309C>A (p.Ile103=) rs1060504198
NM_001080116.1(LDB3):c.321+1449G>A rs368407147
NM_001080116.1(LDB3):c.321+1656G>A rs45563234
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001080116.1(LDB3):c.816T>C (p.His272=) rs748780980
NM_001171610.1(LDB3):c.1134C>T (p.Ala378=) rs773647394
NM_001171610.1(LDB3):c.2025T>C (p.His675=) rs759857527
NM_001171610.1(LDB3):c.2088C>T (p.His696=) rs45486293
NM_007078.2(LDB3):c.-114T>C rs2803558
NM_007078.2(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_007078.2(LDB3):c.1075G>A (p.Asp359Asn) rs557956141
NM_007078.2(LDB3):c.1728C>T (p.Thr576=) rs749988944
NM_007078.2(LDB3):c.1851T>C (p.Ile617=) rs145402041
NM_007078.2(LDB3):c.1956C>T (p.Asp652=) rs139213290
NM_007078.2(LDB3):c.348C>T (p.Ser116=) rs1060504200
NM_007078.2(LDB3):c.450C>T (p.Ser150=) rs878854907
NM_007078.2(LDB3):c.689+9C>T rs727503124
NM_007078.2(LDB3):c.714C>T (p.Ala238=) rs727503125
NM_007078.2(LDB3):c.897-10G>A rs77304928

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