"Genome-Nilou Lab"[submitter] AND "LDHA"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303912	NM_005566.4(LDHA):c.348C>A (p.Ile116=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +2 more	GBenign
Select item 303914	NM_005566.4(LDHA):c.483C>T (p.Ser161=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +2 more	GBenign
Select item 303915	NM_005566.4(LDHA):c.519A>G (p.Leu173=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +2 more	GBenign

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