List of variants in gene GABRA1 reported as likely pathogenic

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: 47

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HGVS	dbSNP	gnomAD frequency
NM_001127644.2(GABRA1):c.1003A>C (p.Asn335His)
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser)	rs1561587910
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	rs775157869
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu)	rs2113307162
NM_001127644.2(GABRA1):c.1313A>G (p.Tyr438Cys)	rs1312078830
NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)
NM_001127644.2(GABRA1):c.256-2A>G	rs1064795805
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)	rs796052488
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)	rs1376907797
NM_001127644.2(GABRA1):c.476+2T>A	rs2113381723
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys)	rs2113293570
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser)	rs727503940
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	rs886039373
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)	rs1554086436
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)	rs1755061747
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr)	rs796052491
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)	rs1060499553
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)	rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe)	rs796052492
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)	rs1755063375
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)	rs1755063970
NM_001127644.2(GABRA1):c.835G>T (p.Val279Leu)
NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)
NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala)	rs794727962
NM_001127644.2(GABRA1):c.857-2A>G	rs1313965409
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile)	rs796052493
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)	rs189199636
NM_001127644.2(GABRA1):c.868G>A (p.Val290Met)	rs796052494
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)	rs1561587715
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)	rs796052496
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe)	rs1173578471
NM_001127644.2(GABRA1):c.891C>G (p.Ser297Arg)	rs796052497
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)	rs1581220163
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr)	rs1755334003
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp)	rs1554087620
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile)	rs1581220210
NM_001127644.2(GABRA1):c.934G>A (p.Ala312Thr)	rs1131691884
NM_001127644.2(GABRA1):c.940G>A (p.Asp314Asn)	rs1064795283
NM_001127644.2(GABRA1):c.973T>C (p.Phe325Leu)	rs1064794681

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