ClinVar Miner

List of variants studied for CHEK2-related cancer predisposition by DASA

Included ClinVar conditions (1):

CHEK2-related cancer predisposition

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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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.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	rs730881701	0.00001
NM_007194.4(CHEK2):c.846+1G>C	rs864622149	0.00001

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