List of variants reported as pathogenic for disorder of multiple glycosylation by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg)	rs587777565
NM_015599.3(PGM3):c.715G>C (p.Asp239His)	rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)	rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs)	rs587777564
NM_020751.3(COG6):c.726del (p.Cys242fs)	rs1593421620
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)	rs267607093
Single allele

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