ClinVar Miner

List of variants in gene LDB3 reported as likely benign for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
Download table as spreadsheet
HGVS dbSNP
NM_007078.3(LDB3):c.-24+8T>C rs2803558
NM_007078.3(LDB3):c.1017T>G (p.Ala339=) rs727504526
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775
NM_007078.3(LDB3):c.1041C>T (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_007078.3(LDB3):c.1053A>T (p.Thr351=)
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141
NM_007078.3(LDB3):c.1092G>A (p.Gln364=)
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296
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.1164C>T (p.Pro388=) rs780108812
NM_007078.3(LDB3):c.1200T>G (p.Thr400=) rs1447980981
NM_007078.3(LDB3):c.1232-8T>G
NM_007078.3(LDB3):c.123C>T (p.Ser41=)
NM_007078.3(LDB3):c.1254G>A (p.Pro418=) rs145942370
NM_007078.3(LDB3):c.1317C>T (p.Pro439=) rs397517208
NM_007078.3(LDB3):c.1434C>T (p.Ser478=)
NM_007078.3(LDB3):c.1442C>G (p.Pro481Arg) rs12761754
NM_007078.3(LDB3):c.144C>T (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.1458C>T (p.Ser486=)
NM_007078.3(LDB3):c.1503C>T (p.Ala501=) rs147692024
NM_007078.3(LDB3):c.1521C>T (p.Thr507=) rs200838004
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007078.3(LDB3):c.1548G>A (p.Arg516=)
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035
NM_007078.3(LDB3):c.1587A>G (p.Pro529=)
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931
NM_007078.3(LDB3):c.1605C>A (p.Thr535=)
NM_007078.3(LDB3):c.1605C>T (p.Thr535=) rs727505207
NM_007078.3(LDB3):c.162C>T (p.Gly54=) rs757856121
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.1697T>G (p.Met566Arg) rs566463138
NM_007078.3(LDB3):c.1728C>T (p.Thr576=) rs749988944
NM_007078.3(LDB3):c.1779G>A (p.Gln593=)
NM_007078.3(LDB3):c.177C>A (p.Thr59=)
NM_007078.3(LDB3):c.1794T>C (p.Cys598=)
NM_007078.3(LDB3):c.1851T>C (p.Ile617=) rs145402041
NM_007078.3(LDB3):c.1858-10T>C rs202208256
NM_007078.3(LDB3):c.1858-5C>A
NM_007078.3(LDB3):c.1869T>C (p.His623=)
NM_007078.3(LDB3):c.1902C>T (p.Phe634=)
NM_007078.3(LDB3):c.1911G>A (p.Ala637=) rs150710377
NM_007078.3(LDB3):c.1944C>T (p.Phe648=)
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.1965C>G (p.Pro655=)
NM_007078.3(LDB3):c.1978+9A>C rs1060504199
NM_007078.3(LDB3):c.2010T>C (p.His670=) rs759857527
NM_007078.3(LDB3):c.2025C>T (p.Pro675=) rs876657490
NM_007078.3(LDB3):c.2049C>T (p.Ile683=)
NM_007078.3(LDB3):c.2073C>T (p.His691=) rs45486293
NM_007078.3(LDB3):c.2130C>T (p.Tyr710=)
NM_007078.3(LDB3):c.2157G>A (p.Lys719=)
NM_007078.3(LDB3):c.2163C>T (p.His721=) rs556787635
NM_007078.3(LDB3):c.245+7G>A
NM_007078.3(LDB3):c.246-4A>G
NM_007078.3(LDB3):c.246-8T>A
NM_007078.3(LDB3):c.285A>C (p.Pro95=)
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_007078.3(LDB3):c.303G>A (p.Pro101=)
NM_007078.3(LDB3):c.309C>A (p.Ile103=) rs1060504198
NM_007078.3(LDB3):c.30C>T (p.Pro10=) rs766817285
NM_007078.3(LDB3):c.318G>A (p.Gln106=)
NM_007078.3(LDB3):c.322-8T>C
NM_007078.3(LDB3):c.324C>A (p.Asp108Glu) rs1322226509
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303
NM_007078.3(LDB3):c.342C>T (p.Asn114=) rs151166414
NM_007078.3(LDB3):c.344G>A (p.Gly115Asp) rs767658173
NM_007078.3(LDB3):c.348C>T (p.Ser116=) rs1060504200
NM_007078.3(LDB3):c.378G>T (p.Ala126=) rs149872184
NM_007078.3(LDB3):c.395C>T (p.Thr132Ile)
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.407C>T (p.Pro136Leu) rs772887402
NM_007078.3(LDB3):c.408G>A (p.Pro136=)
NM_007078.3(LDB3):c.435C>T (p.Ala145=)
NM_007078.3(LDB3):c.444G>C (p.Arg148=) rs754596106
NM_007078.3(LDB3):c.450C>T (p.Ser150=) rs878854907
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr) rs780578350
NM_007078.3(LDB3):c.467C>T (p.Ala156Val)
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys) rs770678454
NM_007078.3(LDB3):c.488C>G (p.Pro163Arg)
NM_007078.3(LDB3):c.492G>A (p.Pro164=) rs368407147
NM_007078.3(LDB3):c.492G>T (p.Pro164=) rs368407147
NM_007078.3(LDB3):c.493C>A (p.Arg165=)
NM_007078.3(LDB3):c.498C>A (p.Ala166=)
NM_007078.3(LDB3):c.501C>A (p.Ser167Arg)
NM_007078.3(LDB3):c.507G>A (p.Arg169=)
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp) rs757099637
NM_007078.3(LDB3):c.526G>A (p.Gly176Arg) rs149167391
NM_007078.3(LDB3):c.531C>T (p.Ala177=)
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp) rs730880128
NM_007078.3(LDB3):c.541C>T (p.Leu181Phe) rs1589623326
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.561G>A (p.Pro187=)
NM_007078.3(LDB3):c.567G>A (p.Ser189=) rs778777214
NM_007078.3(LDB3):c.567_568delinsTT (p.Ser190Cys)
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu) rs758182278
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu)
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112
NM_007078.3(LDB3):c.645G>A (p.Gln215=)
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.669G>A (p.Ser223=)
NM_007078.3(LDB3):c.675C>G (p.Val225=)
NM_007078.3(LDB3):c.675C>T (p.Val225=)
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131
NM_007078.3(LDB3):c.689+10G>A rs45563234
NM_007078.3(LDB3):c.689+8A>G
NM_007078.3(LDB3):c.689+9C>T rs727503124
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007078.3(LDB3):c.783C>T (p.Asp261=) rs45470296
NM_007078.3(LDB3):c.792A>G (p.Ala264=)
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895
NM_007078.3(LDB3):c.831C>T (p.Ile277=) rs752273360
NM_007078.3(LDB3):c.846G>A (p.Thr282=)
NM_007078.3(LDB3):c.891G>A (p.Arg297=) rs374336814
NM_007078.3(LDB3):c.896+6767T>C rs748780980
NM_007078.3(LDB3):c.896+6800C>T
NM_007078.3(LDB3):c.896+6959C>T rs139415121
NM_007078.3(LDB3):c.897-10G>A rs77304928
NM_007078.3(LDB3):c.897-6479C>T rs1554857593
NM_007078.3(LDB3):c.900C>A (p.Thr300=) rs760071118
NM_007078.3(LDB3):c.918G>A (p.Pro306=)
NM_007078.3(LDB3):c.945G>A (p.Pro315=)
NM_007078.3(LDB3):c.999G>A (p.Ser333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.