ClinVar Miner

List of variants reported as pathogenic for Gamma-aminobutyric acid transaminase deficiency by Bonnen Lab,Baylor College of Medicine

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Total variants: 5
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HGVS dbSNP
NM_000663.4(ABAT):c.199-?_316+?del
NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) rs724159991
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) rs724159992
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) rs724159990
NM_020686.6(ABAT):c.659G>A (p.Arg220Lys) rs121434578

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