ClinVar Miner

List of variants in gene LDHA studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687 0.64502
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820 0.64482
NM_005566.4(LDHA):c.*639T>C rs3758682 0.64017
NM_005566.4(LDHA):c.*720C>G rs3758683 0.48049
NM_005566.4(LDHA):c.*622A>G rs3758681 0.47986
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
NM_005566.4(LDHA):c.387G>A (p.Pro129=) rs61752915 0.01092
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
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.*243C>G rs76818137 0.00121
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.696G>C (p.Lys232Asn) rs141158742 0.00071
NM_005566.4(LDHA):c.672G>A (p.Lys224=) rs199918200 0.00041
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile) rs200251957 0.00029
NM_005566.4(LDHA):c.*725T>G rs753218262 0.00025
NM_005566.4(LDHA):c.*817A>C rs527401531 0.00022
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_005566.4(LDHA):c.594G>C (p.Val198=) rs373534867 0.00017
NM_005566.4(LDHA):c.*129A>G rs199722017 0.00016
NM_005566.4(LDHA):c.558T>C (p.His186=) rs570034363 0.00014
NM_005566.4(LDHA):c.*660C>T rs765180823 0.00013
NM_005566.4(LDHA):c.711-8T>A rs200483406 0.00010
NM_005566.4(LDHA):c.162C>T (p.Ile54=) rs200075826 0.00009
NM_005566.4(LDHA):c.435C>T (p.Tyr145=) rs770829264 0.00009
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870 0.00009
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
NM_005566.4(LDHA):c.*311C>T rs200079157 0.00006
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) rs184074326 0.00006
NM_005566.4(LDHA):c.710+9T>A rs182873744 0.00006
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.951G>A (p.Lys317=) rs145889467 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.-24-10C>G rs200267888 0.00002
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) rs199653952 0.00002
NM_005566.4(LDHA):c.39A>C (p.Leu13=) rs371221146 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.291G>A (p.Gly97=) rs200724597 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
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
NC_000011.9:g.(?_18420958)_(18428828_?)dup
NC_000011.9:g.(?_18428644)_(18428828_?)dup
NM_005566.3(LDHA):c.-152dup rs371317664
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+17C>T
NM_005566.4(LDHA):c.126+2T>C
NM_005566.4(LDHA):c.126+3_126+6del rs776715682
NM_005566.4(LDHA):c.126G>A (p.Lys42=)
NM_005566.4(LDHA):c.138T>C (p.Asp46=) rs2134021527
NM_005566.4(LDHA):c.170A>G (p.Lys57Arg) rs2134021578
NM_005566.4(LDHA):c.172T>C (p.Leu58=)
NM_005566.4(LDHA):c.189G>A (p.Met63Ile)
NM_005566.4(LDHA):c.231T>C (p.Ile77=)
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
NM_005566.4(LDHA):c.245-11C>T
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)
NM_005566.4(LDHA):c.273G>C (p.Leu91=)
NM_005566.4(LDHA):c.280A>T (p.Ile94Phe)
NM_005566.4(LDHA):c.300G>A (p.Gln100=)
NM_005566.4(LDHA):c.308G>A (p.Gly103Glu)
NM_005566.4(LDHA):c.315C>T (p.Ser105=)
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)
NM_005566.4(LDHA):c.339C>T (p.Asn113=)
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.410C>A (p.Ser137Ter)
NM_005566.4(LDHA):c.416C>T (p.Pro139Leu)
NM_005566.4(LDHA):c.419-16T>G
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.505C>T (p.Arg169Ter)
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.543C>T (p.His181=)
NM_005566.4(LDHA):c.57C>G (p.Pro19=)
NM_005566.4(LDHA):c.592+17T>G
NM_005566.4(LDHA):c.592+7A>G rs770770614
NM_005566.4(LDHA):c.593-11A>G
NM_005566.4(LDHA):c.593-20G>A
NM_005566.4(LDHA):c.593-7C>A rs1866576661
NM_005566.4(LDHA):c.631_632dup (p.Leu211_Lys212insTer)
NM_005566.4(LDHA):c.675del (p.Glu225fs) rs751851558
NM_005566.4(LDHA):c.710+16A>T
NM_005566.4(LDHA):c.710+19T>C rs1430822822
NM_005566.4(LDHA):c.710+5T>C
NM_005566.4(LDHA):c.711-19A>G
NM_005566.4(LDHA):c.711-3C>T
NM_005566.4(LDHA):c.732C>T (p.Leu244=)
NM_005566.4(LDHA):c.759_778del (p.Leu254fs)
NM_005566.4(LDHA):c.762C>G (p.Leu254=)
NM_005566.4(LDHA):c.764_765del (p.Ser255fs) rs779893062
NM_005566.4(LDHA):c.766G>A (p.Val256Ile)
NM_005566.4(LDHA):c.768A>C (p.Val256=)
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.810G>A (p.Val270=)
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)
NM_005566.4(LDHA):c.824C>T (p.Thr275Ile)
NM_005566.4(LDHA):c.834+20C>T
NM_005566.4(LDHA):c.835-14C>T
NM_005566.4(LDHA):c.835-14_835-11del
NM_005566.4(LDHA):c.835-8A>C
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.861C>T (p.Val287=)
NM_005566.4(LDHA):c.882T>C (p.Ile294=)
NM_005566.4(LDHA):c.925A>C (p.Thr309Pro) rs1866719004
NM_005566.4(LDHA):c.933G>A (p.Glu311=)
NM_005566.4(LDHA):c.941C>T (p.Ala314Val)
NM_005566.4(LDHA):c.942C>G (p.Ala314=)
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
NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer)

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