ClinVar Miner

List of variants reported as likely pathogenic for Congenital disorder of deglycosylation

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Total variants: 5
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HGVS dbSNP
NM_001145293.1(NGLY1):c.1427_1434del
NM_001145294.1(NGLY1):c.121-1G>A
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209

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