ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia complementation group O by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016

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