ClinVar Miner

List of variants in gene CHRNG reported as likely pathogenic for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) rs2106221995

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.