ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_015386.3(COG4):c.1314+86A>C rs2303791 0.62527
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_015386.3(COG4):c.1482-25T>C rs2303793 0.46944
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_015386.3(COG4):c.171+18T>C rs16970260 0.13009
NM_015386.3(COG4):c.739-9C>G rs16970243 0.11989
NM_015386.3(COG4):c.544+19T>A rs74324138 0.05339
NM_015386.3(COG4):c.1195+8C>T rs80034177 0.03426
NM_015386.3(COG4):c.1710+17C>G rs74026056 0.02905
NM_015386.3(COG4):c.845-18T>C rs116746214 0.01342
NM_015386.3(COG4):c.2163G>A (p.Thr721=) rs150547677 0.00801
NM_015386.3(COG4):c.1560C>T (p.Ala520=) rs115668774 0.00183
NM_015386.3(COG4):c.897G>A (p.Gly299=) rs138661425 0.00156
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly) rs201323781 0.00030
NM_015386.3(COG4):c.1074C>T (p.Pro358=) rs200278473 0.00021
NM_015386.3(COG4):c.1605A>C (p.Thr535=) rs751237267 0.00004
NM_015386.3(COG4):c.2236-16A>G rs17879608
NM_015386.3(COG4):c.2310C>G (p.Arg770=) rs533161794
NM_015386.3(COG4):c.370-19G>A

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