ClinVar Miner

List of variants in gene UQCRFS1 reported as pathogenic for Mitochondrial complex 3 deficiency, nuclear type 10

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339

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