ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic

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Total variants: 31
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HGVS dbSNP
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu)
NM_001127644.2(GABRA1):c.1313A>G (p.Tyr438Cys)
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.476+2T>A
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)
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)
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)
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)
NM_001127644.2(GABRA1):c.868G>A (p.Val290Met) rs796052494
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe)
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)
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp) rs1554087620
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.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.973T>C (p.Phe325Leu) rs1064794681

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