ClinVar Miner

List of variants in gene COL4A1 studied for Brain small vessel disease with hemorrhage

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Total variants: 116
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HGVS dbSNP
NM_001845.5(COL4A1):c.*1404T>C rs56406633
NM_001845.5(COL4A1):c.3326-7dupT rs139122216
NM_001845.6(COL4A1):c.*1014C>T rs139916479
NM_001845.6(COL4A1):c.*1039A>G rs776016334
NM_001845.6(COL4A1):c.*1099G>A rs193065628
NM_001845.6(COL4A1):c.*137G>A rs886049956
NM_001845.6(COL4A1):c.*176A>G rs11545877
NM_001845.6(COL4A1):c.*265A>G rs555157539
NM_001845.6(COL4A1):c.*477G>T rs886049955
NM_001845.6(COL4A1):c.*510A>G rs886049954
NM_001845.6(COL4A1):c.*531T>A rs886049953
NM_001845.6(COL4A1):c.*587C>A rs13260
NM_001845.6(COL4A1):c.*609T>C rs189966143
NM_001845.6(COL4A1):c.*634_*635AT[8] rs886049952
NM_001845.6(COL4A1):c.*6C>G rs762512053
NM_001845.6(COL4A1):c.*766G>A rs371130027
NM_001845.6(COL4A1):c.*887del rs886049951
NM_001845.6(COL4A1):c.*975A>C rs28362515
NM_001845.6(COL4A1):c.-20G>T rs886049965
NM_001845.6(COL4A1):c.-71C>G rs867117624
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001845.6(COL4A1):c.1000-5T>G rs75711155
NM_001845.6(COL4A1):c.1084+5C>G rs74508743
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918
NM_001845.6(COL4A1):c.1466-6C>T rs183563055
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.1663= (p.Pro555=) rs536174
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2095+7C>G rs886049961
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) rs561116319
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.2130G>A (p.Pro710=) rs16975492
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499
NM_001845.6(COL4A1):c.234+8C>T rs9521650
NM_001845.6(COL4A1):c.2344+11G>A rs886049960
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775
NM_001845.6(COL4A1):c.280-12C>T rs200121908
NM_001845.6(COL4A1):c.2869+6T>C rs557198622
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661
NM_001845.6(COL4A1):c.2968+12A>G rs752476229
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203
NM_001845.6(COL4A1):c.3198+10G>A rs202002553
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) rs886049958
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800
NM_001845.6(COL4A1):c.3506-7C>G rs377592935
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194
NM_001845.6(COL4A1):c.3742+14G>A rs377503687
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.3877-8G>A rs370539477
NM_001845.6(COL4A1):c.3877-9C>T rs589985
NM_001845.6(COL4A1):c.388-11T>C rs201801894
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255
NM_001845.6(COL4A1):c.3949+10C>T rs188122235
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002
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.4150+3G>A rs545498227
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000
NM_001845.6(COL4A1):c.4250-12C>T rs202055679
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219
NM_001845.6(COL4A1):c.4640+7C>T rs2275843
NM_001845.6(COL4A1):c.4640+8G>A rs117566874
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612
NM_001845.6(COL4A1):c.553-8C>T rs199534388
NM_001845.6(COL4A1):c.616-11G>C rs645114
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.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.780+7G>A rs598893
NM_001845.6(COL4A1):c.781-12G>A rs202198648
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) rs886049964
NM_001845.6(COL4A1):c.85-11T>C rs41275104
NM_001845.6(COL4A1):c.859-10T>C rs677877
NM_001845.6(COL4A1):c.904-9C>T rs201481886
NM_001845.6(COL4A1):c.958-9C>T rs73611465
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714

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