ClinVar Miner

List of variants reported as likely pathogenic for Glycine encephalopathy 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)	rs749512886	0.00001

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