ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia complementation group O by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945

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