ClinVar Miner

List of variants in gene CHAT reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_020549.5(CHAT):c.-44G>C rs7903315 0.54734
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.753-26C>T rs12257601 0.09336
NM_020549.5(CHAT):c.388-50C>T rs4838537 0.06434
NM_020549.5(CHAT):c.1383-42G>C rs61710556 0.05243
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_020549.5(CHAT):c.1111+45G>A rs58788269 0.04525
NM_020549.5(CHAT):c.1281+47G>A rs11101192 0.02533
NM_020549.5(CHAT):c.1674C>T (p.Ser558=) rs7073028 0.02218
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_020549.5(CHAT):c.1281+16G>A rs61132699 0.02037
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.02036
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.02026
NM_020549.5(CHAT):c.-17G>A rs77152496 0.01739
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu) rs868749 0.00385
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.576C>T (p.Asn192=) rs150236872 0.00176
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu) rs79414242 0.00129
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00060
NM_020549.5(CHAT):c.2178G>A (p.Pro726=) rs77144546 0.00026
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_020549.5(CHAT):c.1123C>T (p.Arg375Trp) rs141794970 0.00013
NM_020549.5(CHAT):c.474G>A (p.Gln158=) rs143662656 0.00010
NM_020549.5(CHAT):c.580-9C>G rs371756448 0.00010
NM_020549.5(CHAT):c.417G>C (p.Leu139=) rs116390167 0.00008
NM_020549.5(CHAT):c.1266C>T (p.Tyr422=) rs201381950 0.00006
NM_020549.5(CHAT):c.1347C>T (p.Val449=)
NM_020549.5(CHAT):c.1518A>G (p.Val506=)
NM_020549.5(CHAT):c.1605C>T (p.Ile535=) rs772695708
NM_020549.5(CHAT):c.258G>A (p.Ser86=) rs778636468
NM_020549.5(CHAT):c.287-442C>T rs41306415
NM_020549.5(CHAT):c.580-8C>T rs1590562931
NM_020549.5(CHAT):c.989T>C (p.Phe330Ser) rs1554804021

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.