ClinVar Miner

List of variants in gene LDB3, LOC110121486 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
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.393C>T (p.Ala131=) rs368832031 0.00013
NM_001368067.1(LDB3):c.345C>T (p.Asn115=) rs562263201 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00009
NM_001368067.1(LDB3):c.324G>A (p.Val108=) rs397516556 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001368067.1(LDB3):c.369C>T (p.Asn123=) rs751576160 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_001368067.1(LDB3):c.348C>T (p.Ala116=) rs397516557 0.00004
NM_001368067.1(LDB3):c.390G>A (p.Ser130=) rs568549202 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.427C>T (p.Leu143=) rs763783961 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.432C>T (p.Gly144=) rs558590519 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.465C>T (p.Asn155=) rs200462775 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.435C>G (p.Gly145=) rs367612170 0.00001
NM_001368067.1(LDB3):c.453T>C (p.His151=) rs768048953 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_007078.3(LDB3):c.690-4616C>T rs757618215 0.00001
NM_007078.3(LDB3):c.690-4832C>T rs546887989 0.00001
NM_007078.3(LDB3):c.690-4841C>T rs777780639 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.362G>A (p.Arg121His)
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.380T>C (p.Leu127Pro)
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln) rs2132396809
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
NM_001368067.1(LDB3):c.394C>T (p.Leu132=)
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.414C>T (p.Ile138=) rs372423575
NM_001368067.1(LDB3):c.420G>C (p.Val140=)
NM_001368067.1(LDB3):c.426G>A (p.Gly142=) rs760615794
NM_001368067.1(LDB3):c.432C>A (p.Gly144=)
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.440C>G (p.Ala147Gly)
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
NM_001368067.1(LDB3):c.443C>T (p.Thr148Ile)
NM_001368067.1(LDB3):c.448A>G (p.Ile150Val)
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
NM_001368067.1(LDB3):c.455C>T (p.Ala152Val) rs753193786
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.468G>A (p.Thr156=) rs745413406
NM_001368067.1(LDB3):c.468G>T (p.Thr156=)
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val) rs1845528164
NM_001368067.1(LDB3):c.477C>T (p.Ser159=)
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile) rs1413446799
NM_001368067.1(LDB3):c.486C>T (p.Ser162=)
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
NM_001368067.1(LDB3):c.507C>T (p.Ala169=) rs2132397471
NM_001368067.1(LDB3):c.510C>T (p.Ile170=)
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser) rs373632943
NM_001368067.1(LDB3):c.518A>T (p.Gln173Leu)
NM_001368067.1(LDB3):c.519G>A (p.Gln173=) rs537783577
NM_001368067.1(LDB3):c.528C>G (p.Ala176=)
NM_001368067.1(LDB3):c.544A>C (p.Ser182Arg)
NM_007078.3(LDB3):c.689+3870C>T rs1028583921
NM_007078.3(LDB3):c.689+3901A>G
NM_007078.3(LDB3):c.689+3904A>T rs776327220
NM_007078.3(LDB3):c.689+3916C>A
NM_007078.3(LDB3):c.690-4606C>T
NM_007078.3(LDB3):c.690-4611C>T rs901009545
NM_007078.3(LDB3):c.690-4612C>T rs2132397872
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
NM_007078.3(LDB3):c.690-4835T>A rs2132396498
NM_007078.3(LDB3):c.690-4837C>T rs528725791
NM_007078.3(LDB3):c.690-4842G>T rs113445294
NM_007078.3(LDB3):c.690-4843C>T

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