List of variants in gene GABRG2 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)	rs398123523	0.00001
NM_198904.4(GABRG2):c.1029C>A (p.Phe343Leu)	rs796052511
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs)	rs1554101202
NM_198904.4(GABRG2):c.220C>G (p.Leu74Val)	rs796052503
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser)	rs587777365
NM_198904.4(GABRG2):c.471del (p.Ala158fs)	rs1554097890
NM_198904.4(GABRG2):c.540C>A (p.Tyr180Ter)	rs1057520476
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)	rs1045493304
NM_198904.4(GABRG2):c.822C>A (p.Tyr274Ter)	rs1064794724
NM_198904.4(GABRG2):c.822C>G (p.Tyr274Ter)	rs1064794724
NM_198904.4(GABRG2):c.885G>A (p.Trp295Ter)	rs1554100509
NM_198904.4(GABRG2):c.984G>C (p.Lys328Asn)

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.