List of variants reported as benign for disorder of multiple glycosylation by Genome-Nilou Lab

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_018714.3(COG1):c.1282-48T>C	rs1026130	0.98047
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)	rs3931036	0.95397
NM_006363.6(SEC23B):c.1233+9A>G	rs6081189	0.91788
NM_018714.3(COG1):c.2383-17T>C	rs3829571	0.91491
NM_006363.6(SEC23B):c.834+40T>C	rs911115	0.91369
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)	rs6781	0.80380
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)	rs7997	0.79357
NM_001128227.3(GNE):c.51+34T>C	rs7875447	0.75717
NM_006363.6(SEC23B):c.1665+48C>T	rs2295557	0.66701
NM_020751.3(COG6):c.297+47C>T	rs7330016	0.65748
NM_006348.5(COG5):c.895T>C (p.Phe299Leu)	rs2269970	0.64619
NM_018389.5(SLC35C1):c.*49G>A	rs1139266	0.63052
NM_006416.5(SLC35A1):c.-18G>C	rs9450704	0.59575
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)	rs1026128	0.50958
NM_018714.2(COG1):c.-27A>G	rs3764359	0.50887
NM_015386.3(COG4):c.2142G>A (p.Ser714=)	rs11054	0.47870
NM_015386.3(COG4):c.1482-25T>C	rs2303793	0.46944
NM_004341.5(CAD):c.4773A>G (p.Ala1591=)	rs1141313	0.44315
NM_018714.3(COG1):c.543A>G (p.Ala181=)	rs11544800	0.43890
NM_018714.3(COG1):c.333G>A (p.Gln111=)	rs1052706	0.43844
NM_020751.3(COG6):c.94T>A (p.Cys32Ser)	rs3812883	0.43470
NM_015386.3(COG4):c.646C>T (p.Leu216=)	rs3762171	0.38086
NM_001497.4(B4GALT1):c.648+102C>T	rs913214	0.35792
NM_006363.6(SEC23B):c.1744-20T>A	rs3736775	0.33572
NM_006363.6(SEC23B):c.834+41G>A	rs1555353	0.30830
NM_018389.5(SLC35C1):c.-3A>G	rs3808976	0.27016
NM_005476.7(GNE):c.1817-81G>C	rs2296817	0.15990
NM_006348.5(COG5):c.949-18A>G	rs12536603	0.15851
NM_006348.5(COG5):c.1689T>G (p.Val563=)	rs17349904	0.15364
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)	rs2273526	0.12707
NM_001497.4(B4GALT1):c.597C>T (p.His199=)	rs1065765	0.05834
NM_018714.3(COG1):c.1782G>A (p.Glu594=)	rs1037256
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)	rs3812882

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