ClinVar Miner

List of variants in gene COL4A1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP
GRCh37/hg19 13q34(chr13:110828771-110831768)x1
NC_000013.11:g.(?_110150363)_(110307027_?)dup
NC_000013.11:g.(?_110306924)_(110307047_?)dup
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001845.6(COL4A1):c.1000-5T>G rs75711155
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val) rs1566370178
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) rs1555305682
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470
NM_001845.6(COL4A1):c.1065A>G (p.Arg355=) rs1594575843
NM_001845.6(COL4A1):c.1084+5C>G rs74508743
NM_001845.6(COL4A1):c.1085-2A>G rs1555305593
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519
NM_001845.6(COL4A1):c.1092A>T (p.Pro364=) rs141208458
NM_001845.6(COL4A1):c.1108C>T (p.Pro370Ser) rs773419047
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) rs368143409
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val) rs373712845
NM_001845.6(COL4A1):c.1381+8A>G rs1054421900
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211
NM_001845.6(COL4A1):c.1425T>C (p.Tyr475=) rs1594566831
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) rs369960952
NM_001845.6(COL4A1):c.143A>C (p.Lys48Thr) rs1594082548
NM_001845.6(COL4A1):c.145-5T>C rs749251030
NM_001845.6(COL4A1):c.1466-6C>T rs183563055
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.6(COL4A1):c.1494C>T (p.Gly498=) rs149046219
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552
NM_001845.6(COL4A1):c.1509del (p.Gly504fs) rs1594566006
NM_001845.6(COL4A1):c.1550C>T (p.Thr517Ile)
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg) rs1131691834
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=) rs146480068
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136
NM_001845.6(COL4A1):c.1758C>A (p.Gly586=) rs1594560899
NM_001845.6(COL4A1):c.1781C>T (p.Pro594Leu) rs1555304117
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.1804C>A (p.Pro602Thr) rs769247289
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420
NM_001845.6(COL4A1):c.1868C>T (p.Pro623Leu) rs1555304107
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=) rs202093478
NM_001845.6(COL4A1):c.1897+7C>G rs773791331
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
NM_001845.6(COL4A1):c.2028C>A (p.Gly676=) rs778947922
NM_001845.6(COL4A1):c.2085C>T (p.Pro695=) rs377505775
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180
NM_001845.6(COL4A1):c.2141G>A (p.Gly714Asp) rs1064797179
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val) rs1064795130
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.2313G>A (p.Ala771=) rs781701888
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.234+9G>T rs374115295
NM_001845.6(COL4A1):c.234G>A (p.Lys78=) rs905794416
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993
NM_001845.6(COL4A1):c.2405G>C (p.Gly802Ala) rs1301668632
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=) rs147764548
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val)
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2716+9G>C rs756352312
NM_001845.6(COL4A1):c.279+20A>T rs79359215
NM_001845.6(COL4A1):c.2890G>C (p.Glu964Gln) rs1555303045
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748
NM_001845.6(COL4A1):c.2948C>T (p.Ala983Val) rs956773650
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val) rs1594550371
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter) rs1566351231
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870
NM_001845.6(COL4A1):c.3133G>A (p.Ala1045Thr) rs1057519214
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala) rs886044336
NM_001845.6(COL4A1):c.3178C>T (p.Pro1060Ser) rs886044336
NM_001845.6(COL4A1):c.3198+10G>A rs202002553
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu) rs1566349968
NM_001845.6(COL4A1):c.324+1G>A rs1085307816
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=) rs267603751
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3341C>T (p.Pro1114Leu)
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu) rs1085307568
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg)
NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val) rs1085307982
NM_001845.6(COL4A1):c.3506-7C>G rs377592935
NM_001845.6(COL4A1):c.3556+1G>T rs1555302645
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu) rs372606485
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482
NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu) rs1085307907
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916
NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val) rs1555302449
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=) rs377765047
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3748C>A (p.Pro1250Thr) rs144403132
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp) rs1057518100
NM_001845.6(COL4A1):c.3822A>G (p.Pro1274=) rs746243053
NM_001845.6(COL4A1):c.3857C>A (p.Pro1286His) rs1064795795
NM_001845.6(COL4A1):c.3877-8G>A rs370539477
NM_001845.6(COL4A1):c.3877-9C>T rs589985
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg) rs766346293
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala)
NM_001845.6(COL4A1):c.3915T>G (p.Gly1305=) rs1396040382
NM_001845.6(COL4A1):c.3917A>T (p.Asp1306Val) rs1024592088
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu)
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255
NM_001845.6(COL4A1):c.3949+10C>T rs188122235
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714
NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp)
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524
NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser) rs1566342407
NM_001845.6(COL4A1):c.4134C>A (p.Gly1378=) rs1250683195
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser)
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000
NM_001845.6(COL4A1):c.4332C>T (p.His1444=) rs756069308
NM_001845.6(COL4A1):c.442-10T>C rs1400870120
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994
NM_001845.6(COL4A1):c.4640+3G>T rs770167198
NM_001845.6(COL4A1):c.4640+8G>A rs117566874
NM_001845.6(COL4A1):c.4652G>T (p.Cys1551Phe) rs1594530228
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281
NM_001845.6(COL4A1):c.4693A>T (p.Ile1565Phe)
NM_001845.6(COL4A1):c.4744T>C (p.Ser1582Pro) rs1594530090
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu) rs1566332829
NM_001845.6(COL4A1):c.4764C>G (p.Ser1588Arg) rs779680003
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4797G>T (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=) rs190097900
NM_001845.6(COL4A1):c.4851C>T (p.His1617=) rs748558670
NM_001845.6(COL4A1):c.4912A>C (p.Arg1638=) rs1594527347
NM_001845.6(COL4A1):c.4929-9G>A rs756038842
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val) rs1301142454
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612
NM_001845.6(COL4A1):c.504G>A (p.Gly168=) rs539633643
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920
NM_001845.6(COL4A1):c.553-8C>T rs199534388
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) rs1566376798
NM_001845.6(COL4A1):c.559C>A (p.Pro187Thr) rs1064795868
NM_001845.6(COL4A1):c.606C>T (p.Thr202=)
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs) rs1566376109
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466
NM_001845.6(COL4A1):c.762C>T (p.Phe254=) rs145029443
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989
NM_001845.6(COL4A1):c.801A>C (p.Gly267=) rs1566374260
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802
NM_001845.6(COL4A1):c.859-8_859del rs1360123079
NM_001845.6(COL4A1):c.862_866del (p.Lys288fs) rs1566373199
NM_001845.6(COL4A1):c.904-9C>T rs201481886
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001845.6(COL4A1):c.957+7G>A rs58908343
NM_001845.6(COL4A1):c.958-10T>C rs766495795
NM_001845.6(COL4A1):c.958-9C>T rs73611465
NM_001845.6(COL4A1):c.966G>A (p.Lys322=) rs372969177

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