List of variants in gene CHEK2 reported as uncertain significance for CHEK2-related cancer predisposition

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.320-5T>A	rs121908700	0.00070
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)	rs77130927	0.00051
NM_007194.4(CHEK2):c.*18C>T	rs17884403	0.00037
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	rs200050883	0.00034
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	rs139366548	0.00019
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)	rs199708878	0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)	rs368570187	0.00012
NM_007194.4(CHEK2):c.-44G>C	rs886057330	0.00007
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)	rs138040612	0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	rs121908701	0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)	rs748636216	0.00006
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	rs121908705	0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)	rs145183886	0.00004
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	rs371657037	0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)	rs575910805	0.00002
NM_007194.4(CHEK2):c.*59C>T	rs540410451	0.00001
NM_007194.4(CHEK2):c.-25C>T	rs886057329	0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)	rs749156425	0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)	rs758555487	0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)	rs587781667	0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)	rs786201267	0.00001
NM_007194.4(CHEK2):c.*26A>G	rs1299920296
NM_007194.4(CHEK2):c.*48A>T	rs1379211333
NM_007194.4(CHEK2):c.-39C>G	rs1014208068
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)	rs549755590
NM_007194.4(CHEK2):c.1461+12A>G	rs886057328
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)	rs876658872
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)	rs200917541
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)	rs779607427

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