ClinVar Miner

List of variants reported as likely pathogenic by GeneKor MSA

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Total variants: 49
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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_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
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_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_000038.6(APC):c.1594C>T (p.Gln532Ter) rs1554081901
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.2829_2838+16delinsA rs1565420196
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000059.4(BRCA2):c.7806-2A>T rs81002836
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter) rs1558666177
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) rs762171436
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_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_032043.3(BRIP1):c.2575+1G>A rs1567737536
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_133510.4(RAD51B):c.84G>A (p.Gln28=) rs764896402

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