ClinVar Miner

List of variants in gene CHEK2 reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007194.4(CHEK2):c.1008+8A>G rs139986197 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007194.4(CHEK2):c.592+9A>G rs538351542 0.00002
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.792+10A>G rs753836819 0.00001
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) rs1194893297
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) rs1555932401
NM_007194.4(CHEK2):c.195A>C (p.Thr65=) rs1411341011
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485

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