ClinVar Miner

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

Included ClinVar conditions (80):
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Total variants: 5
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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.810_820dup (p.Ser274fs) rs1574663066
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter) rs1559359546

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