ClinVar Miner

List of variants in gene COG4 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.1711-329C>G rs78030282 0.02215
NM_015386.3(COG4):c.1921-80C>T rs146747816 0.02179
NM_015386.3(COG4):c.1647+49A>G rs78104579 0.01445
NM_015386.3(COG4):c.1648-144G>A rs116925701 0.00893
NM_015386.3(COG4):c.544+40T>C rs143345854 0.00783
NM_015386.3(COG4):c.1195+275T>A rs72792804 0.00566
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_015386.3(COG4):c.1196-123T>C rs146628002 0.00467
NM_015386.3(COG4):c.1061+75G>C rs145032038 0.00370
NM_015386.3(COG4):c.1314+38C>T rs118063325 0.00347
NM_015386.3(COG4):c.1560C>T (p.Ala520=) rs115668774 0.00183
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.845-12C>G rs766724739 0.00025
NM_015386.3(COG4):c.*7G>C rs192714339 0.00021
NM_015386.3(COG4):c.1074C>T (p.Pro358=) rs200278473 0.00021
NM_015386.3(COG4):c.558T>C (p.Asp186=) rs376885733 0.00018
NM_015386.3(COG4):c.1053C>T (p.Ile351=) rs748356993 0.00013
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.1710+14T>C rs373254748 0.00005
NM_015386.3(COG4):c.1605A>C (p.Thr535=) rs751237267 0.00004
NM_015386.3(COG4):c.1314+14C>T rs189538469 0.00003
NM_015386.3(COG4):c.1947C>T (p.Asn649=) rs767131534 0.00003
NM_015386.3(COG4):c.2278T>C (p.Leu760=) rs113010015 0.00003
NM_015386.3(COG4):c.1167C>T (p.Asp389=) rs953723899 0.00002
NM_015386.3(COG4):c.1647+20C>T rs745843280 0.00002
NM_015386.3(COG4):c.2019G>A (p.Pro673=) rs140971621 0.00002
NM_015386.3(COG4):c.18G>A (p.Ala6=) rs764026543 0.00001
NM_015386.3(COG4):c.763C>T (p.Leu255=) rs1428606023 0.00001
NM_015386.3(COG4):c.1002+51C>T rs17652109
NM_015386.3(COG4):c.1482-8dup rs755746795
NM_015386.3(COG4):c.1828-10C>A rs1555573396
NM_015386.3(COG4):c.18G>C (p.Ala6=) rs764026543
NM_015386.3(COG4):c.2236-17dup rs1555573025
NM_015386.3(COG4):c.254+7C>T rs201263573
NM_015386.3(COG4):c.369+15_369+16dup rs746781437
NM_015386.3(COG4):c.369+36_369+38del rs746781437
NM_015386.3(COG4):c.409T>C (p.Leu137=) rs1555497597
NM_015386.3(COG4):c.845-88C>T rs117020450

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.