ClinVar Miner

List of variants in gene combination LDB3, LOC110121486 reported as uncertain significance for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001368067.1(LDB3):c.324G>A (p.Val108=) rs397516556 0.00006
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00006
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr) rs755513516 0.00005
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys) rs369470035 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp) rs376900496 0.00003
NM_001368067.1(LDB3):c.361C>T (p.Arg121Cys) rs750606592 0.00002
NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu) rs938329394 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.405C>A (p.His135Gln) rs928294708 0.00001
NM_001368067.1(LDB3):c.418G>A (p.Val140Met) rs745329859 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_001368067.1(LDB3):c.455C>A (p.Ala152Glu) rs753193786 0.00001
NM_001368067.1(LDB3):c.490G>C (p.Asp164His) rs1000020884 0.00001
NM_001368067.1(LDB3):c.517C>A (p.Gln173Lys) rs1220958570 0.00001
NM_001368067.1(LDB3):c.530A>G (p.Gln177Arg) rs1310394018 0.00001
NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn) rs774522659 0.00001
NM_007078.3(LDB3):c.689+3902G>A rs1057521576 0.00001
NM_001368067.1(LDB3):c.322-1G>A
NM_001368067.1(LDB3):c.323T>C (p.Val108Ala)
NM_001368067.1(LDB3):c.326T>G (p.Val109Gly) rs2132390366
NM_001368067.1(LDB3):c.332A>G (p.Asn111Ser) rs1845427971
NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)
NM_001368067.1(LDB3):c.344+2T>C rs1264291601
NM_001368067.1(LDB3):c.349G>C (p.Asp117His) rs121908338
NM_001368067.1(LDB3):c.353A>C (p.Tyr118Ser) rs1845519689
NM_001368067.1(LDB3):c.355C>T (p.Gln119Ter) rs1564639205
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys) rs773370724
NM_001368067.1(LDB3):c.364T>A (p.Phe122Ile) rs1845520743
NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)
NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)
NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln) rs2132396809
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
NM_001368067.1(LDB3):c.405C>G (p.His135Gln) rs928294708
NM_001368067.1(LDB3):c.410C>A (p.Pro137His)
NM_001368067.1(LDB3):c.413T>A (p.Ile138Asn)
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001368067.1(LDB3):c.467C>T (p.Thr156Met) rs778658354
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val) rs1845528164
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile) rs1413446799
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser) rs373632943
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.690-4618C>T
NM_007078.3(LDB3):c.690-4619G>A
NM_007078.3(LDB3):c.690-4619_690-4618delinsTA rs1060501314
NM_007078.3(LDB3):c.690-4621A>T rs370053163
NM_007078.3(LDB3):c.690-4830C>A rs2132396540

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