List of variants reported as likely pathogenic for Glycine encephalopathy 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)	rs557412758	0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)	rs749512886	0.00001
NM_000481.4(AMT):c.14dup (p.Ser6fs)	rs773988915	0.00001
NM_000170.3(GLDC):c.1708-1G>C

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