ClinVar Miner

List of variants in gene RAD51C reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
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.837+1G>A rs760235677 0.00002
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NC_000017.11:g.58696695_58696708del
NM_058216.3(RAD51C):c.122del (p.Val41fs)
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_058216.3(RAD51C):c.144del (p.Glu49fs)
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs) rs2047940629
NM_058216.3(RAD51C):c.158del (p.Ser53fs) rs587782533
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.200_203dup (p.Cys68Ter) rs1555593521
NM_058216.3(RAD51C):c.200_254del (p.Glu67fs)
NM_058216.3(RAD51C):c.213_216del (p.Lys72fs)
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs) rs786202563
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter) rs1555593553
NM_058216.3(RAD51C):c.225del (p.Arg74_Tyr75insTer) rs1064795774
NM_058216.3(RAD51C):c.230del (p.Gly77fs) rs1057519355
NM_058216.3(RAD51C):c.237dup (p.Glu80Ter)
NM_058216.3(RAD51C):c.241_245delinsG (p.Ser81fs)
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs) rs2143721294
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.262_263del (p.Leu88fs)
NM_058216.3(RAD51C):c.265G>T (p.Glu89Ter)
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_058216.3(RAD51C):c.301dup (p.Ile101fs)
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs) rs1567786509
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.427C>T (p.Gln143Ter)
NM_058216.3(RAD51C):c.432dup (p.Pro145fs) rs1555594590
NM_058216.3(RAD51C):c.434del (p.Pro145fs) rs1598460116
NM_058216.3(RAD51C):c.444dup (p.Gly149fs) rs1555594617
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.464dup (p.Val156fs)
NM_058216.3(RAD51C):c.498del (p.Asp167fs) rs746993675
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) rs587782699
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.519dup (p.Thr174fs) rs1598460710
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.538del (p.Leu180fs)
NM_058216.3(RAD51C):c.551_554delinsAAG (p.Ala184fs)
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs) rs1555594912
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter) rs1330937621
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
NM_058216.3(RAD51C):c.795del (p.Ala266fs) rs2143853617
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
NM_058216.3(RAD51C):c.821del (p.Asn274fs) rs1466185247
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.851_854dup (p.Met286fs) rs1060502605
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.865_866del (p.Lys289fs)
NM_058216.3(RAD51C):c.878del (p.Asn293fs)
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter) rs2143961567
NM_058216.3(RAD51C):c.917del (p.Gly306fs) rs2143961536
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942

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