ClinVar Miner

List of variants in gene CHEK2 reported by PreventionGenetics

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Total variants: 29
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HGVS dbSNP
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1375+16G>A
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) rs730881694
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.444+19T>C rs200501745
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.480_482AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.593-14C>T rs145754558
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.793-11G>A rs5997387
NM_007194.4(CHEK2):c.847-10C>G rs745745105

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