ClinVar Miner

List of variants reported as uncertain significance for Congenital disorder of deglycosylation by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) rs760530009 0.00001

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