ClinVar Miner

List of variants reported as benign for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency by Genome-Nilou Lab

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Total variants: 3
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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.348C>A (p.Ile116=) rs6498 0.12798

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