List of variants reported as pathogenic for DDOST-congenital disorder of glycosylation

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)	rs74526704	0.00003
NM_005216.5(DDOST):c.645G>C (p.Gln215His)	rs867045420	0.00001
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs)	rs587776874
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp)	rs387906831

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