ClinVar Miner

List of variants reported as pathogenic for Glycine encephalopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)	rs201135624	0.00006
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)	rs121964977	0.00001
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter)	rs1554643354

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