ClinVar Miner

List of variants in gene COG4 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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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.2106+67A>C rs6416698 0.66247
NM_015386.3(COG4):c.1314+86A>C rs2303791 0.62527
NM_015386.3(COG4):c.370-175T>C rs8057610 0.57052
NM_015386.3(COG4):c.254+170C>G rs7204583 0.57023
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.1921-31C>T rs12447090 0.35894
NM_015386.3(COG4):c.1315-76G>A rs2303792 0.33135
NM_015386.3(COG4):c.1921-150G>C rs9933510 0.17474
NM_015386.3(COG4):c.545-61G>A rs7193228 0.13063
NM_015386.3(COG4):c.370-123G>A rs8057732 0.13058
NM_015386.3(COG4):c.1002+23A>G rs16970240 0.13057
NM_015386.3(COG4):c.172-268C>T rs28438025 0.13054
NM_015386.3(COG4):c.1061+149A>C rs7191191 0.13046
NM_015386.3(COG4):c.738+208_738+209insT rs11420226 0.13045
NM_015386.3(COG4):c.369+245T>C rs8049929 0.13012
NM_015386.3(COG4):c.171+18T>C rs16970260 0.13009
NM_015386.3(COG4):c.255-229A>G rs56189591 0.12930
NM_015386.3(COG4):c.739-9C>G rs16970243 0.11989
NM_015386.3(COG4):c.1827+115C>T rs34329336 0.09018
NM_015386.3(COG4):c.1482-50G>A rs57301833 0.08335
NM_015386.3(COG4):c.544+19T>A rs74324138 0.05339
NM_015386.3(COG4):c.1920+154A>G rs74026053 0.04853
NM_015386.3(COG4):c.1920+242C>T rs11864184 0.03819
NM_015386.3(COG4):c.369+213G>T rs147125885 0.03814
NM_015386.3(COG4):c.1195+8C>T rs80034177 0.03426
NM_015386.3(COG4):c.1003-30G>C rs79780843 0.03413
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.897G>A (p.Gly299=) rs138661425 0.00156
NC_000016.10:g.70523637_70523639dup rs35037671
NC_000016.10:g.70523638_70523639dup rs35037671
NC_000016.10:g.70523639dup rs35037671
NM_015386.3(COG4):c.*85T>G rs7919
NM_015386.3(COG4):c.1196-217_1196-216del rs140175214
NM_015386.3(COG4):c.1482-213C>T rs11641683
NM_015386.3(COG4):c.1920+255_1920+260del rs149366805
NM_015386.3(COG4):c.2236-16A>G rs17879608
NM_015386.3(COG4):c.255-209dup rs201357619
NM_015386.3(COG4):c.255-324C>A rs55667445
NM_015386.3(COG4):c.369+15dup rs746781437
NM_015386.3(COG4):c.369+182A>T rs74533871
NM_015386.3(COG4):c.369+37_369+38del rs746781437
NM_015386.3(COG4):c.369+38del rs746781437
NM_015386.3(COG4):c.369+60A>G rs8051618

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