List of variants in gene FASTKD2, LOC126806484 studied for Combined oxidative phosphorylation deficiency 44

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001136193.2(FASTKD2):c.872C>T (p.Thr291Met)	rs138500508	0.00014
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)	rs778120270	0.00002
NM_001136193.2(FASTKD2):c.782G>A (p.Arg261His)	rs918461594	0.00001
NM_001136193.2(FASTKD2):c.788A>G (p.Asn263Ser)
NM_001136193.2(FASTKD2):c.808C>G (p.Leu270Val)
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)	rs1574663066
NM_001136193.2(FASTKD2):c.832G>A (p.Glu278Lys)	rs886055506
NM_001136193.2(FASTKD2):c.840G>A (p.Met280Ile)
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter)	rs1559359546
NM_001136193.2(FASTKD2):c.881G>A (p.Arg294Lys)

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