"OMIM"[submitter] AND "MRM2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689394	NM_013393.3(MRM2):c.565G>A (p.Gly189Arg)	MRM2 (G189R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 17	GPathogenic
Select item 1342152	NM_013393.3(MRM2):c.242C>T (p.Ala81Val)	MRM2 (A81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028912	NM_013393.3(MRM2):c.8+1G>T	MRM2	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 17	GPathogenic

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