ClinVar Miner

List of variants studied for Glycine encephalopathy 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00002
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
NM_000170.3(GLDC):c.2202+5G>A
NM_000170.3(GLDC):c.2933C>G (p.Pro978Arg)

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