List of variants reported as pathogenic for congenital disorder of glycosylation type II by Mendelics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	rs779241085	0.00005
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)	rs142863074	0.00003
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)	rs1042469070
NM_018714.3(COG1):c.2665dup (p.Arg889fs)	rs747606976

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