List of variants in gene FASTKD2 reported as likely pathogenic for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001136193.2(FASTKD2):c.882-1G>A	rs767682048	0.00010
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter)	rs994917847	0.00001
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)	rs751316870	0.00001
NM_001136193.2(FASTKD2):c.1538del (p.Leu513fs)	rs1690150292
NM_001136193.2(FASTKD2):c.496_497del (p.Leu166fs)
NM_001136193.2(FASTKD2):c.991-2A>G

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