ClinVar Miner

List of variants studied for Gamma-aminobutyric acid transaminase deficiency by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp) rs1330995774 0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) rs724159992 0.00001
ABAT, 3-PRIME DELETION
NM_000663.5:c.199_316del
NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) rs724159991
NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro) rs1555494322
NM_020686.6(ABAT):c.659G>A (p.Arg220Lys) rs121434578
NM_020686.6(ABAT):c.817-2A>G rs1555492932

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