List of variants in gene GABRG2 studied for complex neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198904.4(GABRG2):c.631+1248A>G	rs211035	0.82291
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter)	rs796052504	0.00003
NM_198904.4(GABRG2):c.108-3373G>A	rs1433555018	0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val)	rs772800839	0.00002
NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter)	rs1761617556	0.00001
NM_198903.2:c.-61_889+60del
NM_198904.4(GABRG2):c.-4del	rs771282908
NM_198904.4(GABRG2):c.-4dup	rs771282908
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val)	rs1060501888
NM_198904.4(GABRG2):c.1153-8C>G	rs771660227
NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys)	rs749946230
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)	rs1194428749
NM_198904.4(GABRG2):c.416G>A (p.Ser139Asn)	rs2113325887
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)	rs267606837
NM_198904.4(GABRG2):c.631+4A>G
NM_198904.4(GABRG2):c.632-5G>A	rs1761614864
NM_198904.4(GABRG2):c.690C>A (p.Gly230=)	rs747988447
NM_198904.4(GABRG2):c.737_740del (p.Arg246fs)
NM_198904.4(GABRG2):c.770-12G>A	rs1764615198
NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro)	rs1764617485
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser)	rs796052508
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val)	rs1554100507
NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)
NM_198904.4(GABRG2):c.947C>A (p.Thr316Asn)
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)	rs796052510
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)	rs397514737

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.