List of variants reported as likely pathogenic for Combined oxidative phosphorylation deficiency 44 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001136193.2(FASTKD2):c.882-1G>A	rs767682048	0.00010
NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter)	rs755068980	0.00001
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)	rs751316870	0.00001
NM_001136193.2(FASTKD2):c.1254+1G>C
NM_001136193.2(FASTKD2):c.1323_1341dup (p.Pro448fs)
NM_001136193.2(FASTKD2):c.1899-2A>G
NM_001136193.2(FASTKD2):c.478_481del (p.Ser160fs)	rs1064794140
NM_001136193.2(FASTKD2):c.991-2A>G

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