ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic for Epileptic encephalopathy, early infantile, 19

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Total variants: 7
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NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
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.884C>T (p.Thr295Ile) rs796052496

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