ClinVar Miner

List of variants in gene COG8 reported as likely benign for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_032382.5(COG8):c.578T>C (p.Val193Ala) rs138647246 0.00304
NM_032382.5(COG8):c.386T>C (p.Val129Ala) rs146248068 0.00101
NM_032382.5(COG8):c.1017C>T (p.Gly339=) rs72795277 0.00051
NM_032382.5(COG8):c.525G>A (p.Leu175=) rs187905134 0.00013
NM_032382.5(COG8):c.522C>T (p.Ala174=) rs375227294 0.00011
NM_032382.5(COG8):c.1305C>T (p.Leu435=) rs760557680 0.00007
NM_032382.5(COG8):c.996C>T (p.Thr332=) rs571595612 0.00006
NM_032382.5(COG8):c.704T>C (p.Met235Thr) rs201646246 0.00005
NM_032382.5(COG8):c.894A>C (p.Pro298=) rs767660926 0.00004
NM_032382.5(COG8):c.1398A>G (p.Glu466=) rs369610000 0.00002
NM_032382.5(COG8):c.1443C>T (p.Arg481=) rs113368039 0.00002
NM_032382.5(COG8):c.1473G>A (p.Glu491=) rs752727817 0.00002
NM_032382.5(COG8):c.1488C>A (p.Val496=) rs759654404 0.00001
NM_032382.5(COG8):c.558G>A (p.Arg186=) rs754606895 0.00001
NM_032382.5(COG8):c.979C>T (p.Leu327=) rs146417943 0.00001
NM_032382.5(COG8):c.1072C>A (p.Arg358=)
NM_032382.5(COG8):c.1095T>C (p.Gly365=)
NM_032382.5(COG8):c.12G>T (p.Ala4=) rs756986120
NM_032382.5(COG8):c.132C>G (p.Pro44=)
NM_032382.5(COG8):c.1413+12C>G rs977274573
NM_032382.5(COG8):c.147C>T (p.Tyr49=) rs1597227398
NM_032382.5(COG8):c.1551T>G (p.Leu517=)
NM_032382.5(COG8):c.1583-6G>T
NM_032382.5(COG8):c.24A>G (p.Pro8=) rs538076531
NM_032382.5(COG8):c.357C>G (p.Pro119=)
NM_032382.5(COG8):c.378-11A>G
NM_032382.5(COG8):c.540C>T (p.Tyr180=)
NM_032382.5(COG8):c.645A>G (p.Gln215=)
NM_032382.5(COG8):c.66G>A (p.Glu22=)
NM_032382.5(COG8):c.810T>C (p.His270=)
NM_032382.5(COG8):c.825C>T (p.Ile275=) rs147094162

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