ClinVar Miner

List of variants in gene CHEK2 reported as likely benign by Counsyl

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 0.00001
NM_007194.4(CHEK2):c.908+18T>A rs755416802 0.00001
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) rs863224415
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597

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