List of variants reported as pathogenic for disorder of beta and omega amino acid metabolism 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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