ClinVar Miner

Variants in gene CHEK2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 92
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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.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.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 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.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 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.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 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_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) rs2145817185
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
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.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
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.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.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
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.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1543-9_1546del rs1555911638
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
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.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
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.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
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.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
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.906del (p.Glu302fs) rs2052974883
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433

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