List of variants in gene MARS2 studied for Combined oxidative phosphorylation defect type 25

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)	rs794726870	0.00001
NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)	rs794726869	0.00001
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)	rs757731660
NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)	rs756596155
NM_138395.4(MARS2):c.928A>G (p.Lys310Glu)	rs771207265

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