ClinVar Miner

List of variants in gene GABRG2 studied for Severe myoclonic epilepsy in infancy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_198903.2(GABRG2):c.*1320G>A rs886060385
NM_198903.2(GABRG2):c.*1392A>T rs886060386
NM_198903.2(GABRG2):c.*1427C>T rs375013278
NM_198903.2(GABRG2):c.*1468A>G rs372041761
NM_198903.2(GABRG2):c.*1497C>T rs11956247
NM_198903.2(GABRG2):c.*1518A>G rs567153845
NM_198903.2(GABRG2):c.*1636T>C rs551794496
NM_198903.2(GABRG2):c.*1763A>T rs886060387
NM_198903.2(GABRG2):c.*1889C>A rs886060388
NM_198903.2(GABRG2):c.*194G>A rs758832535
NM_198903.2(GABRG2):c.*1974G>A rs150875037
NM_198903.2(GABRG2):c.*1981G>C rs886060389
NM_198903.2(GABRG2):c.*2095C>G rs138297122
NM_198903.2(GABRG2):c.*2120_*2121del rs34705786
NM_198903.2(GABRG2):c.*247T>C rs371389067
NM_198903.2(GABRG2):c.*250A>C rs886060384
NM_198903.2(GABRG2):c.*261G>A rs148001179
NM_198903.2(GABRG2):c.*32T>C rs749257839
NM_198903.2(GABRG2):c.*343A>G rs41275341
NM_198903.2(GABRG2):c.*385G>A rs185169107
NM_198903.2(GABRG2):c.*422C>T rs752382943
NM_198903.2(GABRG2):c.*441T>C rs188825588
NM_198903.2(GABRG2):c.*609C>T rs418210
NM_198903.2(GABRG2):c.*661T>A rs424740
NM_198903.2(GABRG2):c.*794A>G rs73316347
NM_198903.2(GABRG2):c.*797G>T rs118064447
NM_198903.2(GABRG2):c.-104T>G rs886060380
NM_198903.2(GABRG2):c.-114T>C rs886060379
NM_198903.2(GABRG2):c.-154C>T rs3219203
NM_198903.2(GABRG2):c.-179T>A rs886060378
NM_198903.2(GABRG2):c.-217C>G rs748771306
NM_198903.2(GABRG2):c.-241A>C rs886060377
NM_198903.2(GABRG2):c.-250C>T rs886060376
NM_198903.2(GABRG2):c.-268C>A rs886060375
NM_198903.2(GABRG2):c.-334C>T rs886060374
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.107+12C>T rs369466385
NM_198903.2(GABRG2):c.1292G>A (p.Arg431His) rs528036202
NM_198903.2(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_198903.2(GABRG2):c.1454G>A (p.Arg485His) rs587780341
NM_198903.2(GABRG2):c.1509G>A (p.Leu503=) rs765904792
NM_198903.2(GABRG2):c.1545G>A (p.Leu515=) rs886060383
NM_198903.2(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_198903.2(GABRG2):c.24C>A (p.Ser8Arg) rs183259247
NM_198903.2(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_198903.2(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
NM_198903.2(GABRG2):c.888C>T (p.Ser296=) rs201672465
NM_198903.2(GABRG2):c.889+10A>G rs765703079

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.