ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005566.4(LDHA):c.-64T>C rs200916427 0.00155
NM_005566.4(LDHA):c.*604A>T rs148774730 0.00153
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) rs116841148 0.00148
NM_005566.4(LDHA):c.183G>A (p.Glu61=) rs149588992 0.00113
NM_005566.4(LDHA):c.*762T>G rs189063205 0.00089
NM_005566.4(LDHA):c.*725T>G rs753218262 0.00055
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile) rs200251957 0.00029
NM_005566.4(LDHA):c.*817A>C rs527401531 0.00022
NM_005566.4(LDHA):c.*129A>G rs199722017 0.00016
NM_005566.4(LDHA):c.*660C>T rs765180823 0.00013
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870 0.00009
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) rs184074326 0.00006
NM_005566.4(LDHA):c.*311C>T rs200079157 0.00005
NM_005566.4(LDHA):c.*666C>T rs923756666 0.00004
NM_005566.4(LDHA):c.*745T>C rs867222703 0.00004
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) rs201460924 0.00003
NM_005566.4(LDHA):c.*835A>G rs886048092 0.00002
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) rs199653952 0.00002
NM_005566.4(LDHA):c.*175C>T rs886048089 0.00001
NM_005566.4(LDHA):c.*228G>A rs1341687956 0.00001
NM_005566.4(LDHA):c.*253G>A rs758268446 0.00001
NM_005566.4(LDHA):c.*312G>A rs200982215 0.00001
NM_005566.4(LDHA):c.*706G>A rs757942016 0.00001
NM_005566.4(LDHA):c.*914A>G rs147174554 0.00001
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys) rs144856598 0.00001
NM_005566.4(LDHA):c.222A>G (p.Thr74=) rs201254300 0.00001
NM_005566.4(LDHA):c.285G>A (p.Thr95=) rs202160072 0.00001
NM_005566.4(LDHA):c.30T>C (p.Tyr10=) rs768444502 0.00001
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly) rs1264619847 0.00001
NM_005566.4(LDHA):c.833A>C (p.Lys278Thr) rs1244071770 0.00001
NM_005566.4(LDHA):c.944G>A (p.Arg315His) rs140090654 0.00001
NC_000011.9:g.(?_18301429)_(18428828_?)dup
NC_000011.9:g.(?_18420958)_(18428828_?)dup
NC_000011.9:g.(?_18428644)_(18428828_?)dup
NM_005566.4(LDHA):c.*18T>C rs1866725270
NM_005566.4(LDHA):c.*48C>T rs1866727073
NM_005566.4(LDHA):c.*501C>A rs886048090
NM_005566.4(LDHA):c.*52G>T rs1866727649
NM_005566.4(LDHA):c.*586A>G rs886048091
NM_005566.4(LDHA):c.*694C>T rs1866763337
NM_005566.4(LDHA):c.117C>G (p.Ile39Met) rs756599511
NM_005566.4(LDHA):c.121A>G (p.Met41Val)
NM_005566.4(LDHA):c.126+3_126+6del rs776715682
NM_005566.4(LDHA):c.126G>A (p.Lys42=)
NM_005566.4(LDHA):c.170A>G (p.Lys57Arg) rs2134021578
NM_005566.4(LDHA):c.189G>A (p.Met63Ile)
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)
NM_005566.4(LDHA):c.280A>T (p.Ile94Phe)
NM_005566.4(LDHA):c.308G>A (p.Gly103Glu)
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)
NM_005566.4(LDHA):c.340G>A (p.Val114Met)
NM_005566.4(LDHA):c.369TGT[1] (p.Val125del)
NM_005566.4(LDHA):c.386C>G (p.Pro129Arg)
NM_005566.4(LDHA):c.386C>T (p.Pro129Leu)
NM_005566.4(LDHA):c.396G>T (p.Lys132Asn)
NM_005566.4(LDHA):c.416C>T (p.Pro139Leu)
NM_005566.4(LDHA):c.436G>A (p.Val146Met)
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)
NM_005566.4(LDHA):c.460C>T (p.Pro154Ser)
NM_005566.4(LDHA):c.470G>A (p.Arg157His) rs368815124
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn) rs768761936
NM_005566.4(LDHA):c.484G>A (p.Gly162Ser)
NM_005566.4(LDHA):c.493C>A (p.Leu165Met)
NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)
NM_005566.4(LDHA):c.538G>T (p.Val180Phe) rs200586792
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser)
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile)
NM_005566.4(LDHA):c.592+7A>G rs770770614
NM_005566.4(LDHA):c.675del (p.Glu225fs) rs751851558
NM_005566.4(LDHA):c.710+5T>C
NM_005566.4(LDHA):c.711-3C>T
NM_005566.4(LDHA):c.764_765del (p.Ser255fs) rs779893062
NM_005566.4(LDHA):c.766G>A (p.Val256Ile)
NM_005566.4(LDHA):c.7A>G (p.Thr3Ala)
NM_005566.4(LDHA):c.803G>A (p.Arg268Lys)
NM_005566.4(LDHA):c.808G>T (p.Val270Leu)
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)
NM_005566.4(LDHA):c.824C>T (p.Thr275Ile)
NM_005566.4(LDHA):c.83T>C (p.Val28Ala)
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
NM_005566.4(LDHA):c.854A>T (p.Asp285Val)
NM_005566.4(LDHA):c.925A>C (p.Thr309Pro) rs1866719004
NM_005566.4(LDHA):c.941C>T (p.Ala314Val)
NM_005566.4(LDHA):c.943C>T (p.Arg315Cys)
NM_005566.4(LDHA):c.975G>T (p.Gly325=) rs1866722555
NM_005566.4(LDHA):c.984G>A (p.Lys328=) rs1866722699
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter) rs121912479

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.