ClinVar Miner

List of variants in gene COG4 studied for not specified

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Total variants: 37
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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.2142G>A (p.Ser714=) rs11054 0.47870
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.1759C>A (p.Gln587Lys) rs113455884 0.00524
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.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.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.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.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.2034C>A (p.Ser678Arg) rs1057518545
NM_015386.3(COG4):c.2236-16A>G rs17879608
NM_015386.3(COG4):c.2236-17dup rs1555573025
NM_015386.3(COG4):c.254+7C>T rs201263573
NM_015386.3(COG4):c.409T>C (p.Leu137=) rs1555497597

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