ClinVar Miner

List of variants in gene COL4A1 studied for not provided

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Total variants: 95
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HGVS dbSNP
NM_001845.4(COL4A1):c.1000-5T>G rs75711155
NM_001845.4(COL4A1):c.1052dupC (p.Pro352Serfs) rs1555305682
NM_001845.4(COL4A1):c.1085-2A>G rs1555305593
NM_001845.4(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211
NM_001845.4(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.4(COL4A1):c.1630G>A (p.Gly544Arg) rs1131691834
NM_001845.4(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.4(COL4A1):c.1820G>T (p.Gly607Val) rs148781420
NM_001845.4(COL4A1):c.1868C>T (p.Pro623Leu) rs1555304107
NM_001845.4(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.4(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.4(COL4A1):c.2282G>T (p.Gly761Val) rs1064795130
NM_001845.4(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.4(COL4A1):c.2405G>C (p.Gly802Ala) rs1301668632
NM_001845.4(COL4A1):c.2627-1G>A rs1064796811
NM_001845.4(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168
NM_001845.4(COL4A1):c.2890G>C (p.Glu964Gln) rs1555303045
NM_001845.4(COL4A1):c.3178C>G (p.Pro1060Ala) rs886044336
NM_001845.4(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.4(COL4A1):c.324+1G>A rs1085307816
NM_001845.4(COL4A1):c.3371G>A (p.Gly1124Glu) rs1085307568
NM_001845.4(COL4A1):c.3497G>T (p.Gly1166Val) rs1085307982
NM_001845.4(COL4A1):c.3556+1G>T rs1555302645
NM_001845.4(COL4A1):c.3611G>A (p.Gly1204Glu) rs1085307907
NM_001845.4(COL4A1):c.3683G>T (p.Gly1228Val) rs1555302449
NM_001845.4(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.4(COL4A1):c.3748C>A (p.Pro1250Thr) rs144403132
NM_001845.4(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.4(COL4A1):c.3857C>A (p.Pro1286His) rs1064795795
NM_001845.4(COL4A1):c.3917A>T (p.Asp1306Val) rs1024592088
NM_001845.4(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714
NM_001845.4(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038
NM_001845.4(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.4(COL4A1):c.4996A>G (p.Met1666Val) rs1301142454
NM_001845.4(COL4A1):c.559C>A (p.Pro187Thr) rs1064795868
NM_001845.4(COL4A1):c.7C>A (p.Pro3Thr) rs751749989
NM_001845.4(COL4A1):c.922G>A (p.Gly308Arg) rs370677625
NM_001845.4(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001845.5(COL4A1):c.1000-13C>G rs115358624
NM_001845.5(COL4A1):c.1040G>T (p.Gly347Val)
NM_001845.5(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.5(COL4A1):c.1056G>A (p.Pro352=)
NM_001845.5(COL4A1):c.1108C>T (p.Pro370Ser) rs773419047
NM_001845.5(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845
NM_001845.5(COL4A1):c.1466-6C>T rs183563055
NM_001845.5(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001845.5(COL4A1):c.1701G>A (p.Pro567=)
NM_001845.5(COL4A1):c.1781C>T (p.Pro594Leu) rs1555304117
NM_001845.5(COL4A1):c.1897+7C>G rs773791331
NM_001845.5(COL4A1):c.2141G>A (p.Gly714Asp) rs1064797179
NM_001845.5(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.5(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.5(COL4A1):c.2291G>A (p.Gly764Asp)
NM_001845.5(COL4A1):c.2313G>A (p.Ala771=) rs781701888
NM_001845.5(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489
NM_001845.5(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.5(COL4A1):c.279+20A>T rs79359215
NM_001845.5(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748
NM_001845.5(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.5(COL4A1):c.3031G>T (p.Gly1011Ter)
NM_001845.5(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870
NM_001845.5(COL4A1):c.3133G>A (p.Ala1045Thr) rs1057519214
NM_001845.5(COL4A1):c.3170T>C (p.Ile1057Thr)
NM_001845.5(COL4A1):c.3178C>T (p.Pro1060Ser) rs886044336
NM_001845.5(COL4A1):c.3236G>A (p.Gly1079Glu)
NM_001845.5(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.5(COL4A1):c.3326-7dupT rs139122216
NM_001845.5(COL4A1):c.3358A>G (p.Lys1120Glu)
NM_001845.5(COL4A1):c.3506-7C>G rs377592935
NM_001845.5(COL4A1):c.3591C>T (p.Ala1197=) rs768381482
NM_001845.5(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001845.5(COL4A1):c.3797G>A (p.Gly1266Asp) rs1057518100
NM_001845.5(COL4A1):c.3877-9C>T rs589985
NM_001845.5(COL4A1):c.388G>A (p.Gly130Arg)
NM_001845.5(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496
NM_001845.5(COL4A1):c.3949+10C>T rs188122235
NM_001845.5(COL4A1):c.4098C>T (p.Gly1366=) rs757948524
NM_001845.5(COL4A1):c.4129C>T (p.Pro1377Ser)
NM_001845.5(COL4A1):c.4757A>T (p.His1586Leu)
NM_001845.5(COL4A1):c.4764C>G (p.Ser1588Arg) rs779680003
NM_001845.5(COL4A1):c.4803C>T (p.Pro1601=) rs190097900
NM_001845.5(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532
NM_001845.5(COL4A1):c.4941G>A (p.Pro1647=) rs115834242
NM_001845.5(COL4A1):c.495T>A (p.His165Gln)
NM_001845.5(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751
NM_001845.5(COL4A1):c.518G>A (p.Gly173Asp) rs567124920
NM_001845.5(COL4A1):c.554G>C (p.Gly185Ala)
NM_001845.5(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.5(COL4A1):c.626_627insT (p.Pro211Serfs)
NM_001845.5(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.5(COL4A1):c.859-8_859del
NM_001845.5(COL4A1):c.862_866del (p.Lys288Argfs)
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)
NM_001845.6(COL4A1):c.801A>C (p.Gly267=)

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