List of variants in gene CHEK2 reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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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.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	rs137853007	0.00005
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	rs730881700	0.00004
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985	0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)	rs1555932341	0.00001
NM_007194.4(CHEK2):c.846+1G>C	rs864622149	0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)	rs761494650	0.00001
NM_007194.3(CHEK2):c.909delG	rs1057517596
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)	rs778989252
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)	rs1555912044
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)	rs1555912001
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)	rs768384031
NM_007194.4(CHEK2):c.247del (p.Gln83fs)	rs587782766
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)	rs1555932071
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)	rs1555927312
NM_007194.4(CHEK2):c.444+1G>T	rs121908698
NM_007194.4(CHEK2):c.591del (p.Val198fs)	rs587782245
NM_007194.4(CHEK2):c.593-1G>T	rs786203229
NM_007194.4(CHEK2):c.683+1G>T	rs786203650
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.860del (p.Lys287fs)	rs886039731
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)	rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)	rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs)	rs748005072
NM_007194.4(CHEK2):c.909-2A>G	rs1555915589

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