ClinVar Miner

List of variants in gene FASTKD2 reported as benign for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001136193.2(FASTKD2):c.*627T>C rs1048783 0.30015
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117 0.18633
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805 0.13062
NM_001136193.2(FASTKD2):c.*2069T>A rs2193885 0.12437
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568 0.12294
NM_001136193.2(FASTKD2):c.*672T>A rs61672260 0.05029
NM_001136193.2(FASTKD2):c.*557A>G rs7559712 0.03356
NM_001136193.2(FASTKD2):c.*9T>C rs10194665 0.01553
NM_001136193.2(FASTKD2):c.*2488T>C rs6435351
NM_001136193.2(FASTKD2):c.991-13G>A rs13421046

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