ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP
NM_007078.3(LDB3):c.-24+8T>C rs2803558
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535
NM_007078.3(LDB3):c.1119C>T (p.Ala373=) rs773647394
NM_007078.3(LDB3):c.1200T>G (p.Thr400=) rs1447980981
NM_007078.3(LDB3):c.1442C>G (p.Pro481Arg) rs12761754
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435
NM_007078.3(LDB3):c.1728C>T (p.Thr576=) rs749988944
NM_007078.3(LDB3):c.1851T>C (p.Ile617=) rs145402041
NM_007078.3(LDB3):c.1911G>A (p.Ala637=) rs150710377
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130
NM_007078.3(LDB3):c.2010T>C (p.His670=) rs759857527
NM_007078.3(LDB3):c.2073C>T (p.His691=) rs45486293
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_007078.3(LDB3):c.30C>T (p.Pro10=) rs766817285
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096
NM_007078.3(LDB3):c.399A>T (p.Pro133=) rs769713715
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681
NM_007078.3(LDB3):c.492G>A (p.Pro164=) rs368407147
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp) rs757099637
NM_007078.3(LDB3):c.543C>T (p.Leu181=) rs148324530
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112
NM_007078.3(LDB3):c.646A>T (p.Met216Leu) rs765199175
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045
NM_007078.3(LDB3):c.689+10G>A rs45563234
NM_007078.3(LDB3):c.689+9C>T rs727503124
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007078.3(LDB3):c.891G>A (p.Arg297=) rs374336814
NM_007078.3(LDB3):c.896+6959C>T rs139415121
NM_007078.3(LDB3):c.897-6479C>T rs1554857593

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