List of variants in gene CHD2 reported as pathogenic by Ambry Genetics

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001271.4(CHD2):c.1417C>T (p.Gln473Ter)
NM_001271.4(CHD2):c.2221del (p.Ala741fs)
NM_001271.4(CHD2):c.2410C>T (p.Arg804Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)	rs752940775
NM_001271.4(CHD2):c.3787dup (p.Val1263fs)	rs869312877
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)	rs1555444702
NM_001271.4(CHD2):c.443+1G>A	rs2141755359
NM_001271.4(CHD2):c.4601G>A (p.Trp1534Ter)	rs1567163701
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs)	rs1555445685
NM_001271.4(CHD2):c.4841dup (p.Gln1615fs)	rs2054437773
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)	rs864309547
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)	rs398122998
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)	rs797044912
NM_001271.4(CHD2):c.522dup (p.Val175fs)
NM_001271.4(CHD2):c.592C>T (p.Gln198Ter)
NM_001271.4(CHD2):c.613C>T (p.Gln205Ter)	rs2053325154

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.