ClinVar Miner

List of variants in gene COG2 reported as uncertain significance for Congenital disorder of glycosylation, type IIq

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_007357.3(COG2):c.2026G>A (p.Ala676Thr) rs149248784 0.00031
NM_007357.3(COG2):c.772G>A (p.Glu258Lys) rs151309110 0.00020
NM_007357.3(COG2):c.1015G>C (p.Ala339Pro) rs767969104 0.00013
NM_007357.3(COG2):c.1358G>A (p.Arg453Gln) rs372577276 0.00011
NM_007357.3(COG2):c.1601T>A (p.Ile534Asn) rs141178219 0.00011
NM_007357.3(COG2):c.1066C>T (p.Arg356Trp) rs200705175 0.00007
NM_007357.3(COG2):c.115C>T (p.Arg39Trp) rs758358715 0.00006
NM_007357.3(COG2):c.1387C>T (p.Leu463Phe) rs141191461 0.00006
NM_007357.3(COG2):c.412C>T (p.Arg138Trp) rs748137002 0.00006
NM_007357.3(COG2):c.722G>A (p.Arg241Gln) rs565186449 0.00006
NM_007357.3(COG2):c.1934+3A>G rs368077748 0.00005
NM_007357.3(COG2):c.1709A>G (p.Lys570Arg) rs752620342 0.00003
NM_007357.3(COG2):c.1825G>A (p.Asp609Asn) rs542540708 0.00002
NM_007357.3(COG2):c.1067G>A (p.Arg356Gln) rs1451969018 0.00001
NM_007357.3(COG2):c.1565A>G (p.Lys522Arg) rs570696606 0.00001
NM_007357.3(COG2):c.2065G>T (p.Asp689Tyr) rs779134446 0.00001
NM_007357.3(COG2):c.860G>A (p.Cys287Tyr) rs1413978375 0.00001
NM_007357.3(COG2):c.1040G>A (p.Ser347Asn)
NM_007357.3(COG2):c.109A>G (p.Arg37Gly) rs2102749319
NM_007357.3(COG2):c.1133A>G (p.Lys378Arg) rs773980476
NM_007357.3(COG2):c.116G>A (p.Arg39Gln) rs766265749
NM_007357.3(COG2):c.1284G>T (p.Arg428Ser) rs1194562705
NM_007357.3(COG2):c.1301T>C (p.Met434Thr)
NM_007357.3(COG2):c.1480G>A (p.Asp494Asn)
NM_007357.3(COG2):c.151C>T (p.Leu51Phe) rs2102749359
NM_007357.3(COG2):c.1529G>T (p.Arg510Leu) rs138181699
NM_007357.3(COG2):c.1622T>C (p.Ile541Thr) rs1662927499
NM_007357.3(COG2):c.1765G>C (p.Val589Leu) rs34109129
NM_007357.3(COG2):c.184G>A (p.Glu62Lys)
NM_007357.3(COG2):c.1935-3A>G
NM_007357.3(COG2):c.1955A>G (p.Asp652Gly)
NM_007357.3(COG2):c.2139_2142del (p.Ser714fs)
NM_007357.3(COG2):c.2159C>T (p.Ser720Leu)
NM_007357.3(COG2):c.413G>A (p.Arg138Gln)
NM_007357.3(COG2):c.479C>T (p.Ala160Val)
NM_007357.3(COG2):c.482G>A (p.Ser161Asn)
NM_007357.3(COG2):c.504A>C (p.Gln168His) rs377285547
NM_007357.3(COG2):c.601G>A (p.Ala201Thr)
NM_007357.3(COG2):c.695G>T (p.Arg232Leu)
NM_007357.3(COG2):c.809A>G (p.Asn270Ser)
NM_007357.3(COG2):c.81C>T (p.Phe27=)
NM_007357.3(COG2):c.82G>A (p.Asp28Asn)
NM_007357.3(COG2):c.872G>A (p.Arg291Gln)
NM_007357.3(COG2):c.936G>A (p.Leu312=) rs1662550597
NM_007357.3(COG2):c.980A>G (p.Lys327Arg)

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