ClinVar Miner

List of variants in gene GATA4 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001308093.3(GATA4):c.462C>T (p.Phe154=) rs56348550 0.00232
NM_001308093.3(GATA4):c.348C>T (p.Ser116=) rs772532276 0.00044
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=) rs771755685 0.00004
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser) rs200167770 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_001308093.3(GATA4):c.1149+177C>T rs12156163

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.