ClinVar Miner

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

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Total variants: 13
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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.387G>A (p.Pro129=) rs61752915 0.01092
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
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.777G>A (p.Leu259=) rs137996815 0.00021
NM_005566.4(LDHA):c.710+9T>A rs182873744 0.00006
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004

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