ClinVar Miner

List of variants in gene CHEK2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 20
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NM_007194.4(CHEK2):c.*59C>T rs540410451
NM_007194.4(CHEK2):c.-25C>T rs886057329
NM_007194.4(CHEK2):c.-44G>C rs886057330
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.593-14C>T rs145754558

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