List of variants in gene FASTKD2 reported as pathogenic for Combined oxidative phosphorylation deficiency 44

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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: 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.1072C>T (p.Arg358Ter)	rs994917847	0.00001
NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter)	rs758094541	0.00001
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)	rs118203917
NM_001136193.2(FASTKD2):c.1644_1647del (p.Leu549fs)
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)	rs1574675683
NM_001136193.2(FASTKD2):c.537del (p.Pro180fs)
NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro)	rs1689552727

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