ClinVar Miner

List of variants in gene LOC129390903, RAD51C studied for Fanconi anemia complementation group O

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr) rs748043225 0.00002
NM_058216.3(RAD51C):c.705+10A>G rs377586976 0.00002
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val) rs531838785 0.00001
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp) rs538884532 0.00001
NM_058216.3(RAD51C):c.620A>G (p.His207Arg) rs587781921 0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln) rs786201848 0.00001
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val) rs771078849 0.00001
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys) rs137947462 0.00001
NM_058216.3(RAD51C):c.641G>A (p.Arg214His) rs760911964 0.00001
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly) rs1483938000 0.00001
NM_058216.3(RAD51C):c.651A>G (p.Thr217=) rs757915374 0.00001
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly) rs1321358603 0.00001
NM_058216.3(RAD51C):c.654G>A (p.Glu218=) rs1388636466 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu) rs1374461662 0.00001
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu) rs780177888 0.00001
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.601C>T (p.Leu201Phe)
NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro) rs587780839
NM_058216.3(RAD51C):c.602T>G (p.Leu201Arg)
NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly) rs1060502591
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu) rs2048270218
NM_058216.3(RAD51C):c.608A>G (p.Asn203Ser)
NM_058216.3(RAD51C):c.610A>G (p.Ile204Val) rs1598473225
NM_058216.3(RAD51C):c.612del (p.Leu205fs) rs2143797889
NM_058216.3(RAD51C):c.615T>C (p.Leu205=) rs2143797988
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
NM_058216.3(RAD51C):c.617C>A (p.Ser206Tyr)
NM_058216.3(RAD51C):c.620A>T (p.His207Leu)
NM_058216.3(RAD51C):c.622A>T (p.Ile208Phe)
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs) rs876659497
NM_058216.3(RAD51C):c.623T>G (p.Ile208Ser) rs1598473279
NM_058216.3(RAD51C):c.624T>G (p.Ile208Met) rs775006411
NM_058216.3(RAD51C):c.625T>G (p.Tyr209Asp) rs2143798413
NM_058216.3(RAD51C):c.626A>T (p.Tyr209Phe) rs1017384420
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys) rs1598473310
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.631T>C (p.Phe211Leu) rs2048271607
NM_058216.3(RAD51C):c.634C>A (p.Arg212Ser) rs137947462
NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly) rs137947462
NM_058216.3(RAD51C):c.635G>T (p.Arg212Leu) rs200857129
NM_058216.3(RAD51C):c.636C>T (p.Arg212=) rs1481957875
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser) rs2143798852
NM_058216.3(RAD51C):c.639T>C (p.Cys213=)
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu) rs2143799278
NM_058216.3(RAD51C):c.645C>T (p.Asp215=)
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys) rs746755735
NM_058216.3(RAD51C):c.648C>T (p.Tyr216=)
NM_058216.3(RAD51C):c.649A>C (p.Thr217Pro)
NM_058216.3(RAD51C):c.649A>G (p.Thr217Ala) rs1555597189
NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser) rs1555597189
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs) rs2048272509
NM_058216.3(RAD51C):c.651A>C (p.Thr217=)
NM_058216.3(RAD51C):c.651A>T (p.Thr217=) rs757915374
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.657A>G (p.Leu219=) rs2143800069
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
NM_058216.3(RAD51C):c.658C>T (p.Leu220=) rs1555597205
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
NM_058216.3(RAD51C):c.663A>C (p.Ala221=)
NM_058216.3(RAD51C):c.666A>G (p.Gln222=) rs1567794382
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile) rs876660177
NM_058216.3(RAD51C):c.669T>C (p.Val223=) rs2143800599
NM_058216.3(RAD51C):c.670_705+64dup rs1555597210
NM_058216.3(RAD51C):c.671A>G (p.Tyr224Cys) rs730881924
NM_058216.3(RAD51C):c.672_705+65dup rs1555597214
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro) rs1032681872
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del) rs1555597217
NM_058216.3(RAD51C):c.675del (p.Leu226fs) rs2048274544
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro) rs1225858240
NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser) rs958242201
NM_058216.3(RAD51C):c.681A>C (p.Pro227=) rs1177043110
NM_058216.3(RAD51C):c.681A>G (p.Pro227=) rs1177043110
NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly) rs2048274960
NM_058216.3(RAD51C):c.683A>T (p.Asp228Val) rs2048274960
NM_058216.3(RAD51C):c.685T>A (p.Phe229Ile)
NM_058216.3(RAD51C):c.687C>T (p.Phe229=) rs780177888
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe) rs751528808
NM_058216.3(RAD51C):c.688del (p.Leu230fs) rs2143801496
NM_058216.3(RAD51C):c.690T>C (p.Leu230=) rs2143801640
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu) rs1060502588
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer) rs2143801795
NM_058216.3(RAD51C):c.693A>G (p.Ser231=) rs1598473581
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys) rs2143801948
NM_058216.3(RAD51C):c.696A>G (p.Glu232=) rs786201177
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp) rs786201177
NM_058216.3(RAD51C):c.697C>T (p.His233Tyr) rs2143802148
NM_058216.3(RAD51C):c.698A>C (p.His233Pro)
NM_058216.3(RAD51C):c.698A>G (p.His233Arg) rs754895072
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.702A>C (p.Ser234=)
NM_058216.3(RAD51C):c.702A>G (p.Ser234=)
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu) rs1555597252
NM_058216.3(RAD51C):c.704del (p.Lys235fs) rs1567794476
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.705+13C>A
NM_058216.3(RAD51C):c.705+13C>T
NM_058216.3(RAD51C):c.705+15A>G
NM_058216.3(RAD51C):c.705+16C>G
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.705+3A>G rs878855179
NM_058216.3(RAD51C):c.705+3A>T rs878855179
NM_058216.3(RAD51C):c.705+4T>G rs778157321
NM_058216.3(RAD51C):c.705+6A>C
NM_058216.3(RAD51C):c.705+9C>G rs1598473685
NM_058216.3(RAD51C):c.705+9C>T rs1598473685
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719

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