List of variants in gene CHEK2 reported by GenomeConnect, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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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.1312G>T (p.Asp438Tyr)	rs200050883	0.00034
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)	rs587780185	0.00001
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)	rs376736188
NM_007194.4(CHEK2):c.909-8T>C	rs1569121935

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