List of variants in gene COG4 studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 155

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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.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.845-18T>C	rs116746214	0.01342
NM_015386.3(COG4):c.1648-144G>A	rs116925701	0.00893
NM_015386.3(COG4):c.2163G>A (p.Thr721=)	rs150547677	0.00801
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.1017G>A (p.Gln339=)	rs138874791	0.00177
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.539A>G (p.Lys180Arg)	rs138693104	0.00036
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)	rs201323781	0.00030
NM_015386.3(COG4):c.558T>C (p.Asp186=)	rs376885733	0.00018
NM_015386.3(COG4):c.1403G>A (p.Arg468Gln)	rs200052272	0.00014
NM_015386.3(COG4):c.1005C>T (p.Phe335=)	rs183569708	0.00012
NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)	rs200259754	0.00012
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu)	rs189821897	0.00011
NM_015386.3(COG4):c.2247C>A (p.Ile749=)	rs767522005	0.00011
NM_015386.3(COG4):c.1931A>G (p.Asn644Ser)	rs144763147	0.00010
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	rs1048764460	0.00006
NM_015386.3(COG4):c.1921-9T>C	rs374848918	0.00004
NM_015386.3(COG4):c.2041G>A (p.Gly681Ser)	rs547599836	0.00004
NM_015386.3(COG4):c.1210C>A (p.Leu404Met)	rs398124291	0.00003
NM_015386.3(COG4):c.1314+14C>T	rs189538469	0.00003
NM_015386.3(COG4):c.59C>T (p.Pro20Leu)	rs781200899	0.00003
NM_015386.3(COG4):c.1072C>A (p.Pro358Thr)	rs573621071	0.00002
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.1900G>A (p.Val634Ile)	rs772560552	0.00002
NM_015386.3(COG4):c.2348A>G (p.Asp783Gly)	rs765871294	0.00002
NM_015386.3(COG4):c.797G>A (p.Arg266Gln)	rs777229476	0.00002
NM_015386.3(COG4):c.1077C>A (p.Ile359=)	rs1179527541	0.00001
NM_015386.3(COG4):c.1397T>C (p.Ile466Thr)	rs142848504	0.00001
NM_015386.3(COG4):c.1415G>A (p.Ser472Asn)	rs372362031	0.00001
NM_015386.3(COG4):c.14T>C (p.Met5Thr)	rs750500740	0.00001
NM_015386.3(COG4):c.1517C>T (p.Pro506Leu)	rs940522796	0.00001
NM_015386.3(COG4):c.1631C>T (p.Ala544Val)	rs886052258	0.00001
NM_015386.3(COG4):c.1795G>A (p.Ala599Thr)	rs759705702	0.00001
NM_015386.3(COG4):c.1948G>A (p.Asp650Asn)	rs372849778	0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)	rs267606740	0.00001
NM_015386.3(COG4):c.2288G>A (p.Arg763His)	rs543968780	0.00001
NM_015386.3(COG4):c.2358G>C (p.Arg786Ser)	rs760163512	0.00001
NM_015386.3(COG4):c.317G>A (p.Cys106Tyr)	rs1015364245	0.00001
NM_015386.3(COG4):c.490C>T (p.Arg164Cys)	rs769331901	0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter)	rs376663459	0.00001
NM_015386.3(COG4):c.599A>G (p.Lys200Arg)	rs567414816	0.00001
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.1002+51C>T	rs17652109
NM_015386.3(COG4):c.1051dup (p.Ile351fs)
NM_015386.3(COG4):c.1118A>T (p.Tyr373Phe)
NM_015386.3(COG4):c.1169C>T (p.Ser390Phe)
NM_015386.3(COG4):c.1196-217_1196-216del	rs140175214
NM_015386.3(COG4):c.1196-7C>G
NM_015386.3(COG4):c.1295T>C (p.Met432Thr)
NM_015386.3(COG4):c.1310A>G (p.Asn437Ser)
NM_015386.3(COG4):c.145G>C (p.Val49Leu)
NM_015386.3(COG4):c.1468G>A (p.Glu490Lys)	rs2049357674
NM_015386.3(COG4):c.1482-213C>T	rs11641683
NM_015386.3(COG4):c.1482-3C>G	rs1231545072
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)	rs1555575860
NM_015386.3(COG4):c.1558G>A (p.Ala520Thr)	rs2049339111
NM_015386.3(COG4):c.15G>A (p.Met5Ile)
NM_015386.3(COG4):c.1636A>T (p.Met546Leu)
NM_015386.3(COG4):c.1647+5G>T
NM_015386.3(COG4):c.1654_1655del (p.Leu552fs)	rs1333878137
NM_015386.3(COG4):c.1663G>A (p.Val555Met)
NM_015386.3(COG4):c.172-7_172-6del
NM_015386.3(COG4):c.1809del (p.Lys603fs)	rs1064793795
NM_015386.3(COG4):c.1920+255_1920+260del	rs149366805
NM_015386.3(COG4):c.1948G>C (p.Asp650His)
NM_015386.3(COG4):c.2005G>C (p.Ala669Pro)	rs1555573157
NM_015386.3(COG4):c.200T>G (p.Leu67Arg)	rs2151765573
NM_015386.3(COG4):c.202_203del (p.Leu68fs)
NM_015386.3(COG4):c.2084T>C (p.Val695Ala)	rs2048999850
NM_015386.3(COG4):c.2095A>G (p.Thr699Ala)
NM_015386.3(COG4):c.2155C>G (p.Leu719Val)
NM_015386.3(COG4):c.2162C>A (p.Thr721Lys)
NM_015386.3(COG4):c.2216C>T (p.Thr739Ile)	rs2151736844
NM_015386.3(COG4):c.2236-16A>G	rs17879608
NM_015386.3(COG4):c.2286_2299del (p.Trp762fs)	rs1555572987
NM_015386.3(COG4):c.2310C>G (p.Arg770=)	rs533161794
NM_015386.3(COG4):c.2356A>G (p.Arg786Gly)
NM_015386.3(COG4):c.2363G>A (p.Arg788His)
NM_015386.3(COG4):c.255-209dup	rs201357619
NM_015386.3(COG4):c.255-324C>A	rs55667445
NM_015386.3(COG4):c.266_267inv (p.Gln89Pro)
NM_015386.3(COG4):c.31C>T (p.Pro11Ser)
NM_015386.3(COG4):c.322C>G (p.Leu108Val)
NM_015386.3(COG4):c.33T>C (p.Pro11=)	rs1597699705
NM_015386.3(COG4):c.369+15_369+16dup	rs746781437
NM_015386.3(COG4):c.369+15dup	rs746781437
NM_015386.3(COG4):c.369+182A>T	rs74533871
NM_015386.3(COG4):c.369+36_369+38del	rs746781437
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
NM_015386.3(COG4):c.383A>G (p.Gln128Arg)
NM_015386.3(COG4):c.500G>A (p.Cys167Tyr)
NM_015386.3(COG4):c.518T>C (p.Ile173Thr)	rs143304533
NM_015386.3(COG4):c.536G>A (p.Gly179Asp)
NM_015386.3(COG4):c.53A>G (p.Gln18Arg)
NM_015386.3(COG4):c.563A>G (p.Asn188Ser)
NM_015386.3(COG4):c.61T>C (p.Ser21Pro)
NM_015386.3(COG4):c.629C>T (p.Ala210Val)
NM_015386.3(COG4):c.665T>C (p.Phe222Ser)
NM_015386.3(COG4):c.682C>T (p.Leu228=)	rs754874232
NM_015386.3(COG4):c.719C>T (p.Ser240Leu)
NM_015386.3(COG4):c.727C>T (p.Leu243Phe)
NM_015386.3(COG4):c.825A>G (p.Thr275=)	rs774805185
NM_015386.3(COG4):c.826C>T (p.Leu276Phe)	rs1047747211
NM_015386.3(COG4):c.844+1G>A
NM_015386.3(COG4):c.844+2T>A	rs1555497029
NM_015386.3(COG4):c.845-88C>T	rs117020450
NM_015386.3(COG4):c.854G>A (p.Arg285His)
NM_015386.3(COG4):c.882G>A (p.Val294=)	rs1597682371
NM_015386.3(COG4):c.946A>C (p.Arg316=)
NM_015386.3(COG4):c.978C>G (p.Ile326Met)

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