List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Mendelics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00013
NM_001136193.2(FASTKD2):c.882-1G>A	rs767682048	0.00010
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp)	rs370866302	0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)	rs587777585	0.00001
NM_020745.4(AARS2):c.2255+1G>A	rs1186074948	0.00001
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)	rs767748655	0.00001
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys)	rs397514593
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter)	rs1445826036
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)	rs2153355304
NM_020745.4(AARS2):c.2487+1G>C	rs2153353848

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