ClinVar Miner

List of variants in gene combination PDZD9, UQCRC2 reported as pathogenic for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003366.4(UQCRC2):c.323G>A (p.Gly108Asp) rs2141927529
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) rs374661051
NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala) rs1898386320

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