ClinVar Miner

List of variants reported as likely benign for DK1-congenital disorder of glycosylation by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014908.4(DOLK):c.700A>G (p.Met234Val)	rs139787271	0.00104
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)	rs148118523	0.00072
NM_014908.4(DOLK):c.1170C>T (p.Ser390=)	rs192515773

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