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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020686.6(ABAT):c.638T>G (p.Phe213Cys)	rs1567312671	0.00001
NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg)	rs781555217
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp)	rs1057523345
NM_020686.6(ABAT):c.168+1G>A	rs1567300736
NM_020686.6(ABAT):c.454C>T (p.Pro152Ser)	rs1567310537
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe)	rs724159990

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