ClinVar Miner

List of variants in gene combination FASTKD2, LOC129935479 reported as uncertain significance for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014929.3(FASTKD2):c.-158T>C rs41272657 0.00634
NM_001136193.2(FASTKD2):c.-130G>A rs543042440 0.00081
NM_014929.3(FASTKD2):c.-178T>C rs539716623 0.00010
NM_001136193.2(FASTKD2):c.-181G>A rs866957815 0.00004
NM_014929.3(FASTKD2):c.-123T>G rs886055504 0.00001
NM_014929.3(FASTKD2):c.-127G>C rs886055503 0.00001
NM_001136193.2(FASTKD2):c.-190A>G rs970608568

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