List of variants studied for combined oxidative phosphorylation deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003321.5(TUFM):c.198C>T (p.Ile66=)	rs11542257	0.02831
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	rs33997182	0.02668
NM_001136193.2(FASTKD2):c.*9T>C	rs10194665	0.01553
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)	rs62288347	0.01504
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)	rs34297061	0.01346
NM_001136193.2(FASTKD2):c.1254+9A>C	rs10177169	0.01315
NM_024996.7(GFM1):c.1083+6T>G	rs142919829	0.00965
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	rs62073570	0.00522
NM_024996.7(GFM1):c.690-5C>G	rs201685981	0.00124
NM_003321.5(TUFM):c.520-8A>T	rs145900455	0.00116
NM_020442.6(VARS2):c.-18_-12del	rs1794042527

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