List of variants reported as pathogenic for ALG6-congenital disorder of glycosylation 1C by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)	rs121908443	0.00003
NM_013339.4(ALG6):c.680+2T>G	rs868768232	0.00001
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)	rs121908444
NM_013339.4(ALG6):c.167+5G>A	rs1557585860
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	rs387906338

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