ClinVar Miner

List of variants reported as pathogenic for Hereditary cancer-predisposing syndrome by GeneKor MSA

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs) rs587780262 0.00006
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_000038.6(APC):c.1779G>A (p.Trp593Ter) rs1554083132
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) rs387906234
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000059.3(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000179.2(MSH6):c.878_880delinsT (p.Pro293Leufs) rs1558659626
NM_000179.3(MSH6):c.2137del (p.Asp713fs) rs864622257
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000249.3(MLH1):c.(453+1_454-1)_(545+1_546-1)del
NM_000251.2(MSH2):c.(1661+1_1662-1)_(*1_?)del
NM_000251.2(MSH2):c.(?-1)_(1276+1_1277-1)del
NM_000535.6(PMS2):c.(?-1)_(*1_?)del
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000546.6(TP53):c.673-1G>A rs878854073
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_001042492.3(NF1):c.2455del (p.His819fs) rs1567848761
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_002354.2(EPCAM):c.(903+1_904-1)_(*1_?)del
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs) rs864622393
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3779_3791dup (p.Leu1264_Leu1265insTer) rs1561661777
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del
NM_007294.3(BRCA1):c.(5074+1-5075-1)_(5193+1_5194-1)del
NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del
NM_007294.3(BRCA1):c.(80+1_81-1)_(134+1_135-1)del
NM_007294.3(BRCA1):c.(?_-1)_(80+1_81-1)del
NM_007294.4(BRCA1):c.2504dup (p.His835fs) rs1555589513
NM_007294.4(BRCA1):c.5194-10_5236dup rs1555576921
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter) rs1567222143
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_032043.3(BRIP1):c.747del (p.Thr250fs) rs1567838174
NM_058216.3(RAD51C):c.905-2A>G rs779582317

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