List of variants in gene LDHA studied for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 171

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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.*725T>G	rs753218262	0.00055
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.*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.406G>A (p.Val136Ile)	rs184074326	0.00006
NM_005566.4(LDHA):c.710+9T>A	rs182873744	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.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.136_137delinsCT (p.Asp46Leu)
NM_005566.4(LDHA):c.138T>C (p.Asp46=)	rs2134021527
NM_005566.4(LDHA):c.146C>A (p.Ala49Asp)
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.207C>G (p.Ser69Arg)
NM_005566.4(LDHA):c.217A>G (p.Arg73Gly)
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.328G>A (p.Val110Ile)
NM_005566.4(LDHA):c.32A>G (p.Asn11Ser)
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.371T>C (p.Val124Ala)
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.454G>C (p.Gly152Arg)
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.476T>C (p.Ile159Thr)
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.512G>A (p.Arg171His)
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.550A>G (p.Ser184Gly)
NM_005566.4(LDHA):c.556C>T (p.His186Tyr)
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.686_687del (p.Glu229fs)
NM_005566.4(LDHA):c.710+16A>T
NM_005566.4(LDHA):c.710+19T>C	rs1430822822
NM_005566.4(LDHA):c.710+1del
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.711-6A>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.778G>C (p.Ala260Pro)
NM_005566.4(LDHA):c.796A>C (p.Asn266His)
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.809T>C (p.Val270Ala)
NM_005566.4(LDHA):c.810G>A (p.Val270=)
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)
NM_005566.4(LDHA):c.823A>T (p.Thr275Ser)
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.940G>C (p.Ala314Pro)
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.965C>T (p.Thr322Ile)
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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