ClinVar Miner

List of variants in gene FASTKD2 reported as pathogenic for Mitochondrial complex IV deficiency, nuclear type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter)	rs755068980	0.00001
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)	rs118203917

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