ClinVar Miner

List of variants in gene MARS2 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
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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