ClinVar Miner

List of variants in gene GABRG2 reported as likely benign for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000816.3(GABRG2):c.*1497C>T rs11956247
NM_000816.3(GABRG2):c.*1518A>G rs567153845
NM_000816.3(GABRG2):c.*1636T>C rs551794496
NM_000816.3(GABRG2):c.*1974G>A rs150875037
NM_000816.3(GABRG2):c.*2095C>G rs138297122
NM_000816.3(GABRG2):c.*261G>A rs148001179
NM_000816.3(GABRG2):c.*343A>G rs41275341
NM_000816.3(GABRG2):c.*385G>A rs185169107
NM_000816.3(GABRG2):c.*441T>C rs188825588
NM_000816.3(GABRG2):c.*794A>G rs73316347
NM_000816.3(GABRG2):c.*797G>T rs118064447
NM_000816.3(GABRG2):c.-154C>T rs3219203
NM_000816.3(GABRG2):c.1148G>A (p.Arg383His) rs528036202
NM_000816.3(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_000816.3(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_000816.3(GABRG2):c.717A>G (p.Gln239=) rs78261481
NM_000816.3(GABRG2):c.768C>T (p.Ser256=) rs201672465

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.