ClinVar Miner

List of variants in gene ARNT2 studied for Webb-Dattani syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014862.4(ARNT2):c.726-69T>C rs11072922 0.79939
NM_014862.4(ARNT2):c.1513+78T>C rs72732084 0.16204
NM_014862.4(ARNT2):c.1513+29G>C rs72732083 0.16187
NM_014862.4(ARNT2):c.2035G>A (p.Gly679Ser) rs4072568 0.15882
NM_014862.4(ARNT2):c.2007C>T (p.Ser669=) rs61753570 0.00360
NM_014862.4(ARNT2):c.1918+18G>A rs149334476 0.00058
NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser) rs145079722 0.00024
NM_014862.4(ARNT2):c.1414G>A (p.Gly472Ser) rs138241250 0.00007
NM_014862.4(ARNT2):c.1589C>A (p.Ser530Tyr) rs771365661 0.00001
NM_014862.4(ARNT2):c.1222C>G (p.Arg408Gly) rs142574625
NM_014862.4(ARNT2):c.1372_1373dup (p.Tyr459fs) rs1596021185
NM_014862.4(ARNT2):c.195-16C>T rs79685127
NM_014862.4(ARNT2):c.195-28del rs5814026
NM_014862.4(ARNT2):c.726-3T>G rs1897384694
NM_014862.4(ARNT2):c.791+5G>A rs1595993043

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.