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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)	rs587777323	0.00007
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	rs1048764460	0.00006
NM_006302.3(MOGS):c.882del (p.Glu295fs)	rs765427546	0.00004
NM_006348.5(COG5):c.613C>T (p.Arg205Ter)	rs370851836	0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)	rs200177031	0.00004
NM_006302.3(MOGS):c.1483C>T (p.Arg495Ter)	rs746601093	0.00002
NM_006302.3(MOGS):c.646del (p.Val216fs)	rs777654978	0.00002
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)	rs762675426	0.00002
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)	rs548774836	0.00002
NM_006348.5(COG5):c.1159del (p.Arg387fs)	rs1422285851	0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)	rs148069173	0.00001
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)	rs766512058	0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)	rs1227032564	0.00001
NC_000001.10:g.(?_230203028)_(231413288_?)del
NC_000002.11:g.(?_72359356)_(74779761_?)del
NC_000002.12:g.(?_74461255)_(74465267_?)del
NC_000007.13:g.(?_106843961)_(107053097_?)del
NC_000007.13:g.(?_106897157)_(106938811_?)del
NC_000007.13:g.(?_106897157)_(107002885_?)del
NC_000007.13:g.(?_106921725)_(106924197_?)del
NC_000007.13:g.(?_106964865)_(106964986_?)del
NC_000007.13:g.(?_107002458)_(107002885_?)del
NC_000007.13:g.(?_107002458)_(107053097_?)del
NC_000007.13:g.(?_107002458)_(107204434_?)del
NC_000007.13:g.(?_107052927)_(107053097_?)del
NC_000007.13:g.(?_107167662)_(107167822_?)del
NC_000007.13:g.(?_107188536)_(107204434_?)del
NC_000007.13:g.(?_107204228)_(107204434_?)del
NC_000011.9:g.(?_45827353)_(47804770_?)del
NC_000023.10:g.(?_48762413)_(48763384_?)del
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)	rs2147496735
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)	rs2147489736
NM_005660.3(SLC35A2):c.348del (p.Val117fs)	rs1557043131
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter)	rs2147489558
NM_005660.3(SLC35A2):c.426+287_775del	rs1557042824
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)	rs1283637638
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)	rs1602338615
NM_005660.3(SLC35A2):c.656_660del (p.Val218_Tyr219insTer)	rs2147487028
NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs)	rs2063479086
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs)	rs2063477918
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)	rs587776961
NM_005660.3(SLC35A2):c.991_993del (p.Val331del)	rs2063477224
NM_006302.3(MOGS):c.1142dup (p.Leu383fs)
NM_006302.3(MOGS):c.1204del (p.Ile402fs)
NM_006302.3(MOGS):c.1222del (p.Gln408fs)
NM_006302.3(MOGS):c.1421G>A (p.Trp474Ter)
NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter)
NM_006302.3(MOGS):c.287G>A (p.Trp96Ter)	rs781577192
NM_006302.3(MOGS):c.422del (p.Asp141fs)
NM_006302.3(MOGS):c.54dup (p.Ala19fs)
NM_006302.3(MOGS):c.551G>A (p.Trp184Ter)
NM_006302.3(MOGS):c.832_833del (p.Lys278fs)
NM_006302.3(MOGS):c.881del (p.Pro294fs)
NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs)
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter)	rs2116916717
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
NM_006348.5(COG5):c.1415dup (p.Gly474fs)	rs773281248
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
NM_006348.5(COG5):c.1627C>T (p.Gln543Ter)	rs778187974
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs)	rs771651520
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
NM_006348.5(COG5):c.2167del (p.Arg723fs)	rs2116402799
NM_006348.5(COG5):c.220G>T (p.Glu74Ter)	rs1803451815
NM_006348.5(COG5):c.2234dup (p.Ser746fs)	rs2116202376
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter)	rs2116201860
NM_006348.5(COG5):c.2T>G (p.Met1Arg)	rs375702393
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)	rs1563018529
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
NM_006348.5(COG5):c.697del (p.Gln233fs)
NM_006348.5(COG5):c.729_730dup (p.Thr244fs)	rs1289836014
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
NM_006348.5(COG5):c.81del (p.Glu27fs)	rs777937112
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
NM_006348.5(COG5):c.936del (p.Val313fs)
NM_006348.5(COG5):c.961C>T (p.Gln321Ter)	rs370028534
NM_006348.5(COG5):c.96del (p.Cys33Valfs)	rs1554464495
NM_007357.3(COG2):c.260del (p.Gln87fs)
NM_007357.3(COG2):c.436dup (p.Ile146fs)	rs1031719032
NM_015386.3(COG4):c.1608del (p.Gly537fs)
NM_015386.3(COG4):c.599_600del (p.Lys200fs)	rs2049726544
NM_015386.3(COG4):c.6del (p.Thr3fs)	rs937887233
NM_015386.3(COG4):c.883G>T (p.Glu295Ter)	rs2151758219
NM_018389.5(SLC35C1):c.367del (p.Val123fs)	rs2085872592
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)	rs587777655
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)	rs1470970903
NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
NM_018714.3(COG1):c.1091del (p.Asn364fs)
NM_018714.3(COG1):c.1130del (p.Lys377fs)	rs2145097019
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
NM_020751.3(COG6):c.252del (p.Ala85fs)	rs2137942150
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)	rs780534334
NM_153603.4(COG7):c.1498dup (p.Tyr500fs)
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
NM_181581.3(DUS4L):c.-339_-338del	rs1049832940

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