ClinVar Miner

List of variants reported as likely benign for COG4-congenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.845-18T>C rs116746214 0.01342
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_015386.3(COG4):c.1017G>A (p.Gln339=) rs138874791 0.00177
NM_015386.3(COG4):c.592C>T (p.Arg198Cys) rs118183032 0.00133
NM_015386.3(COG4):c.171+3G>A rs368602741 0.00061
NM_015386.3(COG4):c.558T>C (p.Asp186=) rs376885733 0.00018
NM_015386.3(COG4):c.1123C>T (p.Arg375Cys) rs140920304 0.00016
NM_015386.3(COG4):c.513G>A (p.Ser171=) rs369063742 0.00016
NM_015386.3(COG4):c.1005C>T (p.Phe335=) rs183569708 0.00012
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu) rs189821897 0.00011
NM_015386.3(COG4):c.2247C>A (p.Ile749=) rs767522005 0.00011
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn) rs200083914 0.00009
NM_015386.3(COG4):c.369+13G>T rs199761750 0.00009
NM_015386.3(COG4):c.1827+12G>C rs372162273 0.00006
NM_015386.3(COG4):c.1128C>A (p.Phe376Leu) rs768897804 0.00004
NM_015386.3(COG4):c.1481+12T>C rs765239084 0.00004
NM_015386.3(COG4):c.1711-10T>C rs375556502 0.00004
NM_015386.3(COG4):c.1839G>A (p.Thr613=) rs565871794 0.00004
NM_015386.3(COG4):c.123A>G (p.Thr41=) rs770026002 0.00003
NM_015386.3(COG4):c.1314+14C>T rs189538469 0.00003
NM_015386.3(COG4):c.1632G>A (p.Ala544=) rs771255200 0.00003
NM_015386.3(COG4):c.2278T>C (p.Leu760=) rs113010015 0.00003
NM_015386.3(COG4):c.1072C>A (p.Pro358Thr) rs573621071 0.00002
NM_015386.3(COG4):c.1647+20C>T rs745843280 0.00002
NM_015386.3(COG4):c.811A>G (p.Ile271Val) rs551058375 0.00002
NM_015386.3(COG4):c.1314+15G>A rs760842896 0.00001
NM_015386.3(COG4):c.150C>T (p.Tyr50=) rs200747786 0.00001
NM_015386.3(COG4):c.1536C>T (p.Asp512=) rs1330420100 0.00001
NM_015386.3(COG4):c.172-14T>A rs533486299 0.00001
NM_015386.3(COG4):c.2067C>T (p.Val689=) rs376705726 0.00001
NM_015386.3(COG4):c.2268T>C (p.Asn756=) rs1056975658 0.00001
NM_015386.3(COG4):c.2343T>C (p.Ser781=) rs987662091 0.00001
NM_015386.3(COG4):c.339C>T (p.Ser113=) rs1178516238 0.00001
NM_015386.3(COG4):c.1002+13A>G
NM_015386.3(COG4):c.1647+13C>T
NM_015386.3(COG4):c.1648-12C>T rs770851169
NM_015386.3(COG4):c.1648-9A>C rs777747818
NM_015386.3(COG4):c.171+10C>A rs773672255
NM_015386.3(COG4):c.172-11C>T
NM_015386.3(COG4):c.1839G>C (p.Thr613=)
NM_015386.3(COG4):c.1950C>T (p.Asp650=)
NM_015386.3(COG4):c.1978C>T (p.Leu660=)
NM_015386.3(COG4):c.2004+10G>A
NM_015386.3(COG4):c.2107-18G>A rs2151736985
NM_015386.3(COG4):c.327T>C (p.Ala109=)
NM_015386.3(COG4):c.372C>T (p.Asn124=)
NM_015386.3(COG4):c.510G>A (p.Lys170=)
NM_015386.3(COG4):c.68G>A (p.Gly23Glu)
NM_015386.3(COG4):c.739-8T>C
NM_015386.3(COG4):c.897G>T (p.Gly299=)

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