ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic by GeneDx

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Total variants: 12
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NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
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.891C>G (p.Ser297Arg) rs796052497
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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