ClinVar Miner

List of variants reported as pathogenic for CHEK2-related cancer predisposition by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):

CHEK2-related cancer predisposition

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026

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