ClinVar Miner

List of variants in gene CHD3 reported as pathogenic by SIB Swiss Institute of Bioinformatics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501

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.