ClinVar Miner

List of variants in gene CHAT reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_020549.4(CHAT):c.1122C>T (p.Asn374=) rs61115650
NM_020549.4(CHAT):c.1131G>A (p.Ser377=) rs115126024
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.1674C>T (p.Ser558=) rs7073028
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.25A>G (p.Arg9Gly) rs587780314
NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) rs3810950
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020549.4(CHAT):c.711C>G (p.Ser237Arg) rs78925077
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.745C>G (p.Leu249Val) rs115510708
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064

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.