ClinVar Miner

List of variants in gene CHEK2 reported by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1461+783C>T rs114608104 0.01709
NM_007194.4(CHEK2):c.592+1802A>G rs17885996 0.00506
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.792+128C>T rs149538098 0.00204
NM_007194.4(CHEK2):c.1461+1775T>C rs562452153 0.00195
NM_007194.4(CHEK2):c.1096-129A>T rs574744424 0.00192
NM_007194.4(CHEK2):c.1375+140G>C rs17886236 0.00190
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.847-1329T>C rs188142621 0.00147
NM_007194.4(CHEK2):c.1375+121T>C rs555987511 0.00137
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.1462-181A>T rs869312552 0.00052
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.-6-3504A>G rs192508267 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.592+1705C>A rs532061616 0.00026
NM_007194.4(CHEK2):c.909-74T>C rs568812233 0.00020
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.909-61T>A rs143467815 0.00011
NM_007194.4(CHEK2):c.846+664C>T rs869312551 0.00010
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1542+208C>T rs200110854 0.00007
NM_007194.4(CHEK2):c.793-122G>A rs869312548 0.00004
NM_007194.4(CHEK2):c.1009-166A>G rs869312554 0.00002
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_007194.3(CHEK2):c.909-?_1095+?del
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.793-107G>T rs869312553
NM_007194.4(CHEK2):c.909-90C>T rs869312549

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