Variants in gene GABRA1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu)	rs1064796448
NM_001127644.2(GABRA1):c.289T>A (p.Trp97Arg)
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly)	rs1754197638
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp)	rs1754199170
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)	rs587777308
NM_001127644.2(GABRA1):c.454G>A (p.Gly152Ser)	rs2113381632
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	rs727503940
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly)	rs1755063375
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg)	rs796052495
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu)	rs1755333582
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)	rs769743354

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.