ClinVar Miner

List of variants in gene CHEK2 reported as likely pathogenic for Familial cancer of breast

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
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_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NC_000022.10:g.(?_29083879)_(29083980_?)del
NC_000022.10:g.(?_29090010)_(29115483_?)dup
NC_000022.10:g.(?_29091105)_(29108015_?)dup
NC_000022.10:g.(?_29095816)_(29095935_?)dup
NC_000022.10:g.(?_29095816)_(29099564_?)del
NC_000022.10:g.(?_29099483)_(29099564_?)dup
NC_000022.10:g.(?_29099483)_(29115483_?)dup
NC_000022.10:g.(?_29099493)_(29099554_?)dup
NC_000022.10:g.(?_29105984)_(29115483_?)dup
NC_000022.10:g.(?_29105988)_(29106053_?)del
NC_000022.10:g.(?_29105988)_(29108011_?)dup
NC_000022.10:g.(?_29120157)_(29121088_?)del
NC_000022.10:g.(?_29120955)_(29121365_?)dup
NC_000022.11:g.(?_28687743)_(28687986_?)del
NC_000022.11:g.(?_28687887)_(28687996_?)del
NC_000022.11:g.(?_28687891)_(28689221_?)del
NC_000022.11:g.(?_28687897)_(28689225_?)del
NC_000022.11:g.(?_28689125)_(28696997_?)del
NC_000022.11:g.(?_28689129)_(28696993_?)del
NC_000022.11:g.(?_28699838)_(28703566_?)del
NC_000022.11:g.(?_28709996)_(28710069_?)del
NC_000022.11:g.(?_28709996)_(28712027_?)dup
NC_000022.11:g.(?_28709996)_(28725377_?)dup
NC_000022.11:g.(?_28719385)_(28725377_?)dup
NM_007194.3(CHEK2):c.320-?_592+?dup273
NM_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.-6-45_36del
NM_007194.4(CHEK2):c.-6-5_6del
NM_007194.4(CHEK2):c.-6_2delinsA (p.Met1fs)
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>C rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>A
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-1G>A rs1555914382
NM_007194.4(CHEK2):c.1009-1G>T
NM_007194.4(CHEK2):c.1009-1del
NM_007194.4(CHEK2):c.1009-2A>C rs766158073
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1009-2A>T rs766158073
NM_007194.4(CHEK2):c.1009-2_1011del
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) rs2145817185
NM_007194.4(CHEK2):c.1094_1095+4del
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+1G>C
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1095+1dup
NM_007194.4(CHEK2):c.1095+2T>A rs1569115687
NM_007194.4(CHEK2):c.1095+2T>C rs1569115687
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1096-1G>T rs1060502716
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
NM_007194.4(CHEK2):c.1096-2A>C
NM_007194.4(CHEK2):c.1096-2A>G rs2145807398
NM_007194.4(CHEK2):c.1096-3_1096-1delinsAA
NM_007194.4(CHEK2):c.1096-3_1098del rs876659838
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) rs755127902
NM_007194.4(CHEK2):c.1102G>C (p.Asp368His)
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala) rs769439021
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala) rs771387164
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1239del (p.Gly414fs)
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1259+1G>T rs121908707
NM_007194.4(CHEK2):c.1259+2T>A
NM_007194.4(CHEK2):c.1259+2T>C rs1555913631
NM_007194.4(CHEK2):c.1259+2del rs1555913632
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1260-24_1263del rs1601720308
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) rs771772104
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs) rs1569111699
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1375+1G>C rs759706360
NM_007194.4(CHEK2):c.1375+1G>T
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1375+1del
NM_007194.4(CHEK2):c.1375+1delinsTTTCA
NM_007194.4(CHEK2):c.1375+2T>C rs1483241325
NM_007194.4(CHEK2):c.1375+2T>G
NM_007194.4(CHEK2):c.1375+2_1375+15del
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1452del (p.Trp485fs) rs2145784297
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter) rs1601715852
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>C rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+1del
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1461+2del rs1601715755
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1462-2del
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs) rs2145748708
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs) rs2145748685
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
NM_007194.4(CHEK2):c.1522del (p.Leu508fs)
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs) rs2052240942
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer) rs2145748275
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1540del (p.Gln514fs) rs2145748046
NM_007194.4(CHEK2):c.1543-11_1543-2del rs2145739661
NM_007194.4(CHEK2):c.1543-1G>A rs2052190289
NM_007194.4(CHEK2):c.1543-1G>C rs2052190289
NM_007194.4(CHEK2):c.1543-1G>T
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1543-2A>G
NM_007194.4(CHEK2):c.1543-2A>T
NM_007194.4(CHEK2):c.1543-44_1581del
NM_007194.4(CHEK2):c.1543-9_1546del rs1555911638
NM_007194.4(CHEK2):c.1544del (p.Pro515fs) rs1555911640
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) rs876658646
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) rs863224748
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu) rs863224748
NM_007194.4(CHEK2):c.1_3delinsTTT (p.Met1Phe)
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) rs1555932071
NM_007194.4(CHEK2):c.319+1G>C rs765080766
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+1del
NM_007194.4(CHEK2):c.319+2T>C
NM_007194.4(CHEK2):c.319+2T>G rs587782401
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.320-1G>A
NM_007194.4(CHEK2):c.320-1G>C rs864622613
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-2A>G rs1336652138
NM_007194.4(CHEK2):c.320-2A>T
NM_007194.4(CHEK2):c.320-2del
NM_007194.4(CHEK2):c.320-3_320del
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
NM_007194.4(CHEK2):c.364_369del (p.Glu122_Tyr123del)
NM_007194.4(CHEK2):c.371_372delinsAG (p.Cys124Ter)
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.424_444+35del
NM_007194.4(CHEK2):c.429_444+4del
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.444+2T>G
NM_007194.4(CHEK2):c.444_444+1del rs1064793780
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-1G>T
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.445-2A>T
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.452_453delinsA (p.Gly151fs)
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs) rs1601824130
NM_007194.4(CHEK2):c.469_592+808del rs2053903140
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>C (p.Gly167Arg)
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs) rs2053942986
NM_007194.4(CHEK2):c.528del (p.Gly178fs)
NM_007194.4(CHEK2):c.549_552del (p.Asn184fs)
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+1G>A rs1601822722
NM_007194.4(CHEK2):c.592+1G>T
NM_007194.4(CHEK2):c.592+2T>A
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.593-2A>C
NM_007194.4(CHEK2):c.593-2A>G rs2146007633
NM_007194.4(CHEK2):c.593-2A>T
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.681_683+1del
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>A rs781021132
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.683+2T>G
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.684-1G>C rs1298667185
NM_007194.4(CHEK2):c.684-1del rs2145953393
NM_007194.4(CHEK2):c.684-1dup
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.684-2A>T rs2053419665
NM_007194.4(CHEK2):c.684-3_684-2del
NM_007194.4(CHEK2):c.684-5_684-2delinsC rs2053419709
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) rs753972711
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser) rs878854922
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+1G>C
NM_007194.4(CHEK2):c.792+2T>A rs545982789
NM_007194.4(CHEK2):c.792+2T>G rs545982789
NM_007194.4(CHEK2):c.792+2_792+17del
NM_007194.4(CHEK2):c.792+5G>A rs876658514
NM_007194.4(CHEK2):c.792_792+1del rs774831804
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.841_842del (p.Asn281fs)
NM_007194.4(CHEK2):c.844_846+16delinsTATTA
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+1_846+2delinsC
NM_007194.4(CHEK2):c.846+2T>A rs1601777275
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+2T>G
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-12_847-2del rs1410392419
NM_007194.4(CHEK2):c.847-12_847-2delinsTTG
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.847-1G>T
NM_007194.4(CHEK2):c.847-1_893del
NM_007194.4(CHEK2):c.847-2A>C
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.847-2A>T
NM_007194.4(CHEK2):c.847-2_857del rs2145878627
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
NM_007194.4(CHEK2):c.891_908+3del rs2145876703
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.903_908+26del rs2145876249
NM_007194.4(CHEK2):c.906del (p.Glu302fs) rs2052974883
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>C rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+1_908+13delinsTTTAAAA
NM_007194.4(CHEK2):c.908+1_908+8delinsTT rs1569127917
NM_007194.4(CHEK2):c.908+2T>A rs1601752066
NM_007194.4(CHEK2):c.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.908+2T>G
NM_007194.4(CHEK2):c.908+2dup
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.909-1G>T rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
NM_007194.4(CHEK2):c.91del (p.Ser31fs)
NM_007194.4(CHEK2):c.941del (p.Val314fs) rs1601738999

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