ClinVar Miner

List of variants in gene CHD2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1503-2A>G
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2876+1G>T
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4137+2T>C
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-3C>A rs2141785016

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.