ClinVar Miner

List of variants reported for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.558T>C (p.His186=) rs570034363 0.00014
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
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.-24-10C>G rs200267888 0.00002
NM_005566.4(LDHA):c.470G>A (p.Arg157His) rs368815124

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