List of variants reported as pathogenic for disorder of multiple glycosylation by Mendelics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)	rs139624629	0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)	rs775380378	0.00003
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)	rs1197456861
NM_004341.5(CAD):c.571C>T (p.Arg191Ter)	rs1572423883
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)	rs1042469070
NM_018714.3(COG1):c.2665dup (p.Arg889fs)	rs747606976
NM_024592.5(SRD5A3):c.697+1G>C	rs1719958144

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