ClinVar Miner

List of variants reported as likely pathogenic for Glycine encephalopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)	rs769625871

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