ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001846.4(COL4A2):c.-277A>C rs7989823 0.63352
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001846.4(COL4A2):c.-215C>T rs7990017 0.48885
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185 0.36168
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492 0.32653
NM_001846.4(COL4A2):c.-203T>C rs7991332 0.31576
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224 0.25994
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001846.4(COL4A2):c.-133A>G rs35466678 0.15263
NM_001845.6(COL4A1):c.4640+7C>T rs2275843 0.14797
NM_001845.6(COL4A1):c.*587C>A rs13260 0.14311
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NC_000013.11:g.110148959A>G rs56406633 0.02412
NM_001845.6(COL4A1):c.958-9C>T rs73611465 0.02279
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.02118
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.*975A>C rs28362515 0.00280
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.*176A>G rs11545877 0.00235
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.*1014C>T rs139916479 0.00121
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001846.4(COL4A2):c.-101G>A rs528084465 0.00084
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000 0.00061
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.3198+10G>A rs202002553 0.00048
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00048
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264 0.00041
NM_001845.6(COL4A1):c.*609T>C rs189966143 0.00036
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082 0.00030
NM_001845.6(COL4A1):c.-13C>G rs60069761 0.00026
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897 0.00025
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.3742+14G>A rs377503687 0.00025
NM_001845.6(COL4A1):c.388-11T>C rs201801894 0.00024
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802 0.00024
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.*477G>T rs886049955 0.00014
NM_001845.6(COL4A1):c.*995C>T rs769502575 0.00014
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val) rs373712845 0.00012
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) rs140440365 0.00012
NM_001845.6(COL4A1):c.2968+12A>G rs752476229 0.00012
NM_001845.6(COL4A1):c.-71C>G rs867117624 0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776 0.00011
NM_001845.6(COL4A1):c.280-12C>T rs200121908 0.00010
NM_001845.6(COL4A1):c.*265A>G rs555157539 0.00009
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.*766G>A rs371130027 0.00006
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00006
NM_001845.6(COL4A1):c.*433T>G rs1051748243 0.00005
NM_001845.6(COL4A1):c.234+9G>A rs374115295 0.00005
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) rs368143409 0.00004
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) rs561116319 0.00004
NM_001845.6(COL4A1):c.3743-15C>T rs375583789 0.00004
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415 0.00004
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002 0.00004
NM_001845.6(COL4A1):c.*1099G>A rs193065628 0.00003
NM_001845.6(COL4A1):c.*530A>G rs967749737 0.00003
NM_001845.6(COL4A1):c.*838T>C rs143486029 0.00003
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) rs369960952 0.00003
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg) rs750620293 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499 0.00002
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) rs376513801 0.00002
NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser) rs778680549 0.00002
NM_001845.6(COL4A1):c.957+6C>T rs754165294 0.00002
NM_001845.6(COL4A1):c.*1039A>G rs776016334 0.00001
NM_001845.6(COL4A1):c.*6C>G rs762512053 0.00001
NM_001845.6(COL4A1):c.-101G>T rs1884771928 0.00001
NM_001845.6(COL4A1):c.-20G>T rs886049965 0.00001
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918 0.00001
NM_001845.6(COL4A1):c.145-5T>C rs749251030 0.00001
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=) rs749215704 0.00001
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) rs765423555 0.00001
NM_001845.6(COL4A1):c.2095+7C>G rs886049961 0.00001
NM_001845.6(COL4A1):c.2344+11G>A rs886049960 0.00001
NM_001845.6(COL4A1):c.2344+12C>A rs373696600 0.00001
NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) rs1351737168 0.00001
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475 0.00001
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625 0.00001
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775 0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) rs200504781 0.00001
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) rs149543327 0.00001
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) rs774198019 0.00001
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser) rs148290885 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.*510A>G rs886049954
NM_001845.6(COL4A1):c.*531T>A rs886049953
NM_001845.6(COL4A1):c.*634AT[8] rs886049952
NM_001845.6(COL4A1):c.*887del rs886049951
NM_001845.6(COL4A1):c.*952A>G rs1876400313
NM_001845.6(COL4A1):c.-90G>A rs113651836
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) rs139448202
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) rs1391929875
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) rs1877962670
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) rs1188217302
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys) rs1877800291
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) rs886049958
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.354C>T (p.Gly118=) rs1879852432
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) rs1876538166
NM_001845.6(COL4A1):c.494A>G (p.His165Arg) rs200805263
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) rs886049962
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_001846.4(COL4A2):c.-232C>G rs7990009

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