List of variants in gene combination LOC101928525, MRPS2 reported as uncertain significance 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu)	rs138712673	0.00308
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	rs758539748	0.00003
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)	rs995894816
NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)
NM_016034.5(MRPS2):c.736G>A (p.Val246Met)
NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr)	rs1831230615

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