Variants in gene GABRA1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)	rs41308303	0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)	rs200750234	0.00066
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)	rs190024862	0.00028
NM_001127644.2(GABRA1):c.-4C>T	rs375475234	0.00014
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)	rs143815396	0.00013
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)	rs374616425	0.00011
NM_001127644.2(GABRA1):c.*2T>A	rs762836110	0.00010
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)	rs200218956	0.00003
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)	rs75423500	0.00002
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)	rs1755340949	0.00001
NM_000806.5(GABRA1):c.-438del	rs112361424
NM_000806.5(GABRA1):c.-442dup	rs201310567
NM_001127644.2(GABRA1):c.*304del	rs547262225
NM_001127644.2(GABRA1):c.-117GACTCG[3]	rs527890421
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)	rs1581175017
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)	rs139163545

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.