ClinVar Miner

List of variants reported as likely pathogenic for Glycine encephalopathy 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)	rs386833565	0.00009
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)	rs1587908683

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