ClinVar Miner

List of variants in gene GABRA1 reported as pathogenic for brain disorder

Included ClinVar conditions (1840):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000005.9:g.(?_161309544)_(161309727_?)del
NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu) rs1755339912
NM_001127644.2(GABRA1):c.1059+2T>C rs1755341108
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser) rs2113380903
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
NM_001127644.2(GABRA1):c.560-95_598del
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.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys) rs2113446442
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) rs1561584736
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.813del (p.Phe272fs) rs2113446665
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu) rs796052493
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) rs1755330256
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu) rs2113464798
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val) rs1755338662

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