ClinVar Miner

List of variants in gene combination LOC129390903, RAD51C reported as pathogenic for Fanconi anemia complementation group O

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter) rs1060502588 0.00001
NC_000017.11:g.(?_58703186)_(58703339_?)del
NM_058216.2(RAD51C):c.572-?_705+?del
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs) rs2048269550
NM_058216.3(RAD51C):c.612del (p.Leu205fs) rs2143797889
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs) rs876659497
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs) rs2048272509
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter) rs201529791
NM_058216.3(RAD51C):c.675del (p.Leu226fs) rs2048274544
NM_058216.3(RAD51C):c.688del (p.Leu230fs) rs2143801496
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer) rs2143801795
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.704del (p.Lys235fs) rs1567794476
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.705+1G>A rs876658644

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