ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter) rs1558666177
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter) rs1562633172
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_133510.4(RAD51B):c.84G>A (p.Gln28=) rs764896402

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