List of variants in gene combination LOC101928525, MRPS2 reported as pathogenic for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)	rs201229537	0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	rs758539748	0.00003
NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)	rs761334309	0.00001

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