ClinVar Miner

List of variants reported as uncertain significance for cerebrovascular disorder

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 418
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr) rs148731719 0.00799
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) rs147868237 0.00389
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp) rs183800704 0.00319
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) rs201493500 0.00317
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_003176.4(SYCP1):c.260A>G (p.Tyr87Cys) rs146221635 0.00273
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404 0.00271
NM_052905.4(FMNL2):c.3231T>G (p.Phe1077Leu) rs182064759 0.00228
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg) rs201620985 0.00187
NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr) rs545060242 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_002486.5(NCBP1):c.373G>A (p.Val125Met) rs143745791 0.00132
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu) rs189765261 0.00109
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met) rs149177904 0.00099
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn) rs144769597 0.00099
NM_001846.4(COL4A2):c.-87G>A rs895274784 0.00072
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys) rs139265462 0.00061
NM_001613.4(ACTA2):c.*28A>T rs143005546 0.00054
NM_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His) rs372173405 0.00042
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
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.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) rs200890679 0.00021
NM_001846.4(COL4A2):c.*366A>T rs886720876 0.00020
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn) rs41280666 0.00019
NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile) rs201733659 0.00018
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val) rs534665632 0.00018
NM_001846.4(COL4A2):c.*796T>C rs958768469 0.00017
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr) rs148776624 0.00016
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
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.1454C>T (p.Pro485Leu) rs142177702 0.00014
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) rs768640764 0.00014
NM_001846.4(COL4A2):c.3455-14G>A rs369510198 0.00013
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_001845.6(COL4A1):c.-71C>G rs867117624 0.00011
NM_001846.4(COL4A2):c.1978+4T>C rs372577230 0.00011
NM_001846.4(COL4A2):c.*493C>G rs770230018 0.00010
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) rs587776449 0.00010
NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile) rs746640449 0.00009
NM_001845.6(COL4A1):c.*265A>G rs555157539 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser) rs374205118 0.00009
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) rs138687424 0.00008
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg) rs144171664 0.00008
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) rs761169216 0.00008
NM_001846.4(COL4A2):c.4403-10C>T rs974483781 0.00008
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001846.4(COL4A2):c.-117C>T rs996191480 0.00007
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met) rs143061887 0.00006
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_001845.6(COL4A1):c.*433T>G rs1051748243 0.00005
NM_001845.6(COL4A1):c.234+9G>A rs374115295 0.00005
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=) rs374972536 0.00005
NM_001846.4(COL4A2):c.2477C>G (p.Pro826Arg) rs1020176452 0.00005
NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) rs1803268 0.00005
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln) rs766292366 0.00004
NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser) rs138223459 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys) rs570739274 0.00004
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.858+4A>T rs916106593 0.00004
NM_001846.4(COL4A2):c.*254C>T rs978536033 0.00004
NM_001846.4(COL4A2):c.-241C>T rs1444820598 0.00004
NM_001846.4(COL4A2):c.1078+12A>G rs1473673298 0.00004
NM_001846.4(COL4A2):c.1676G>A (p.Arg559Gln) rs199574157 0.00004
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val) rs761867026 0.00004
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys) rs751658527 0.00004
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp) rs375813265 0.00004
NM_001846.4(COL4A2):c.4881+11T>C rs370209795 0.00004
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn) rs749942019 0.00004
NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr) rs971318341 0.00003
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343 0.00003
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro) rs1308599413 0.00003
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys) rs753076389 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
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.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=) rs576636085 0.00003
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001846.4(COL4A2):c.*563A>G rs886049983 0.00003
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=) rs767050469 0.00003
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763 0.00003
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu) rs201158095 0.00003
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser) rs373806617 0.00003
NM_001846.4(COL4A2):c.862-5C>T rs555514799 0.00003
NM_006031.6(PCNT):c.2179C>G (p.His727Asp) rs767864228 0.00003
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_001256071.3(RNF213):c.1015C>T (p.Leu339Phe) rs906213655 0.00002
NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His) rs1321156693 0.00002
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys) rs1241745586 0.00002
NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu) rs773785078 0.00002
NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp) rs1001310092 0.00002
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
NM_001613.4(ACTA2):c.369+7A>G rs760471677 0.00002
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala) rs747214508 0.00002
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly) rs756221734 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499 0.00002
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.957+6C>T rs754165294 0.00002
NM_001846.4(COL4A2):c.*390G>A rs1281110806 0.00002
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro) rs909040713 0.00002
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) rs781075845 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001846.4(COL4A2):c.461G>A (p.Gly154Glu) rs375700657 0.00002
NM_001846.4(COL4A2):c.914G>T (p.Gly305Val) rs377088851 0.00002
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser) rs760793367 0.00002
NM_006767.4(LZTR1):c.2368C>T (p.Arg790Trp) rs767637944 0.00002
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu) rs747142039 0.00001
NM_000484.4(APP):c.1409G>A (p.Arg470His) rs182162117 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) rs1363194253 0.00001
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418 0.00001
NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu) rs778482758 0.00001
NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val) rs746280089 0.00001
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala) rs1253832723 0.00001
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr) rs1383472329 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly) rs757461793 0.00001
NM_001733.7(C1R):c.674G>A (p.Arg225Gln) rs769328977 0.00001
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.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918 0.00001
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=) rs749215704 0.00001
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr) rs1878441079 0.00001
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) rs765423555 0.00001
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2095+7C>G rs886049961 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe) rs755499333 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.2659C>T (p.Pro887Ser) rs1055161168 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.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val) rs757670001 0.00001
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) rs774198019 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 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.4462+3A>G rs201116557 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His) rs756403856 0.00001
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg) rs370338256 0.00001
NM_001846.4(COL4A2):c.1597-1G>A rs745376502 0.00001
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913 0.00001
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln) rs886049975 0.00001
NM_001846.4(COL4A2):c.2414C>T (p.Pro805Leu) rs1376206514 0.00001
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=) rs1034589988 0.00001
NM_001846.4(COL4A2):c.2995A>G (p.Met999Val) rs1317550156 0.00001
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696 0.00001
NM_001846.4(COL4A2):c.3179C>T (p.Thr1060Met) rs372727377 0.00001
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp) rs200165414 0.00001
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala) rs886049978 0.00001
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser) rs975120661 0.00001
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg) rs757047420 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys) rs560510434 0.00001
NM_001846.4(COL4A2):c.4291C>T (p.Arg1431Cys) rs139124960 0.00001
NM_001846.4(COL4A2):c.450C>T (p.Pro150=) rs775266949 0.00001
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769 0.00001
NM_001846.4(COL4A2):c.4892C>T (p.Ala1631Val) rs201495557 0.00001
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser) rs753412782 0.00001
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr) rs397517161 0.00001
NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val) rs771147923 0.00001
NM_014043.4(CHMP2B):c.157G>C (p.Gly53Arg) rs755409238 0.00001
NM_015039.4(NMNAT2):c.427G>A (p.Val143Met) rs199765030 0.00001
NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val) rs746620483 0.00001
NM_017668.3(NDE1):c.948-39G>A rs571613839 0.00001
NM_024656.4(COLGALT1):c.1411C>T (p.Arg471Trp) rs1226022092 0.00001
NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr) rs758188972 0.00001
NC_000017.11:g.80392616_80422726del
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
NM_000099.4(CST3):c.212G>A (p.Arg71His)
NM_000099.4(CST3):c.340C>T (p.Gln114Ter) rs1600363764
NM_000311.5(PRNP):c.713C>T (p.Pro238Leu) rs1489076172
NM_000345.4(SNCA):c.370G>T (p.Ala124Ser) rs1358566725
NM_000435.3(NOTCH3):c.2093C>G (p.Pro698Arg)
NM_000460.4(THPO):c.-146G>A
NM_000484.3(APP):c.-170C>A rs538664273
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215
NM_000488.4(SERPINC1):c.1388T>C (p.Val463Ala)
NM_000488.4(SERPINC1):c.427A>G (p.Ile143Val)
NM_001001548.3(CD36):c.443T>A (p.Ile148Asn)
NM_001001662.3(ZNF782):c.962G>A (p.Arg321His) rs146058964
NM_001069.3(TUBB2A):c.1309G>A (p.Glu437Lys) rs369148878
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile) rs782018054
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His) rs369215353
NM_001134232.2(TMEM106B):c.115G>C (p.Asp39His) rs770339502
NM_001134407.3(GRIN2A):c.937A>G (p.Ile313Val) rs1465063447
NM_001141945.3(ACTA2):c.-23-3869A>G rs886047455
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001171.6(ABCC6):c.1068G>A (p.Met356Ile)
NM_001252102.2(KIF21B):c.433G>C (p.Ala145Pro) rs368704611
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr) rs777402744
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met) rs1181813391
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu) rs1555645286
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr) rs797045189
NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)
NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile) rs762259446
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg) rs1555675572
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro) rs1555675612
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) rs1555676035
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val) rs1555676146
NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr) rs1568149984
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn) rs2144536464
NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp) rs1599190981
NM_001256071.3(RNF213):c.13751T>C (p.Leu4584Pro)
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser) rs1356925198
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile) rs2080083465
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) rs797045188
NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del) rs797045186
NM_001256071.3(RNF213):c.2812-3C>G
NM_001256071.3(RNF213):c.2822G>T (p.Arg941Leu)
NM_001267571.2(TBC1D2):c.2261C>A (p.Thr754Lys) rs774546155
NM_001613.4(ACTA2):c.*122T>C rs886047451
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.290G>A (p.Arg97His)
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr) rs1845812659
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225
NM_001733.7(C1R):c.853C>A (p.Leu285Met)
NM_001845.6(COL4A1):c.*36T>A rs2138415337
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.1081A>C (p.Lys361Gln) rs1879231791
NM_001845.6(COL4A1):c.1121-986C>T rs2139188713
NM_001845.6(COL4A1):c.144+1G>A rs2139245731
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) rs139448202
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.1655C>T (p.Pro552Leu)
NM_001845.6(COL4A1):c.1670G>C (p.Arg557Thr)
NM_001845.6(COL4A1):c.1771G>A (p.Val591Ile) rs1878413648
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys) rs767374916
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) rs1391929875
NM_001845.6(COL4A1):c.2036G>T (p.Gly679Val) rs2139169535
NM_001845.6(COL4A1):c.2143C>T (p.Arg715Cys)
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg) rs1878139161
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2440G>A (p.Gly814Arg) rs1878014262
NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) rs1188217302
NM_001845.6(COL4A1):c.2848A>G (p.Lys950Glu)
NM_001845.6(COL4A1):c.2924G>A (p.Gly975Glu) rs2139162708
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup) rs2139162654
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) rs1877834496
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.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.354C>T (p.Gly118=) rs1879852432
NM_001845.6(COL4A1):c.3556+4A>G
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)
NM_001845.6(COL4A1):c.364A>C (p.Ile122Leu)
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4433G>A (p.Gly1478Asp)
NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg) rs1879801583
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) rs1876538166
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del) rs1294802953
NM_001845.6(COL4A1):c.647A>G (p.Glu216Gly)
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) rs886049964
NM_001846.4(COL4A2):c.*22C>A rs1884109665
NM_001846.4(COL4A2):c.*242C>T rs886049982
NM_001846.4(COL4A2):c.*450G>T rs541941155
NM_001846.4(COL4A2):c.*830T>C rs886049984
NM_001846.4(COL4A2):c.-220C>T rs1285340381
NM_001846.4(COL4A2):c.-277A>G rs7989823
NM_001846.4(COL4A2):c.-44-5T>C rs886049966
NM_001846.4(COL4A2):c.-77G>A rs547827059
NM_001846.4(COL4A2):c.1340-1G>C rs1566544453
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) rs886049972
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs)
NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp) rs1881894360
NM_001846.4(COL4A2):c.1607G>A (p.Gly536Asp) rs2139498756
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu) rs886049973
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) rs886049974
NM_001846.4(COL4A2):c.186G>T (p.Gln62His)
NM_001846.4(COL4A2):c.1934G>A (p.Gly645Asp) rs2139503632
NM_001846.4(COL4A2):c.2105G>C (p.Gly702Ala) rs2139508226
NM_001846.4(COL4A2):c.2132G>A (p.Gly711Glu) rs1199170231
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=) rs1319150301
NM_001846.4(COL4A2):c.2269C>T (p.Pro757Ser) rs1882537795
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2515G>A (p.Gly839Arg)
NM_001846.4(COL4A2):c.2555C>T (p.Pro852Leu)
NM_001846.4(COL4A2):c.2758+8T>C rs1882858975
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp) rs754829210
NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser) rs1880406303
NM_001846.4(COL4A2):c.2908C>T (p.Arg970Ter)
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg) rs1302254625
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val) rs2139529268
NM_001846.4(COL4A2):c.316-5C>G rs886049967
NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)
NM_001846.4(COL4A2):c.3208-14A>G rs886049977
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser) rs1883277373
NM_001846.4(COL4A2):c.3473G>C (p.Gly1158Ala)
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.3896G>A (p.Gly1299Glu) rs2139552061
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)
NM_001846.4(COL4A2):c.4230_4257del (p.Pro1413fs)
NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=) rs1883883239
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly) rs753103440
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4903G>C (p.Gly1635Arg)
NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys) rs1232600556
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) rs200430407
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001846.4(COL4A2):c.5125A>G (p.Met1709Val) rs370681819
NM_001846.4(COL4A2):c.549+5G>A rs886049969
NM_001846.4(COL4A2):c.670C>G (p.Pro224Ala) rs1240828595
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp) rs1880869213
NM_001846.4(COL4A2):c.922G>C (p.Gly308Arg) rs2139468768
NM_001846.4(COL4A2):c.964C>T (p.Arg322Ter)
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) rs766433250
NM_002880.4(RAF1):c.1471A>C (p.Thr491Pro)
NM_004444.5(EPHB4):c.1960A>T (p.Thr654Ser)
NM_005188.4(CBL):c.1190G>A (p.Gly397Glu)
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) rs756530482
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro) rs1385198964
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met) rs1910123378
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_018676.4(THSD1):c.1021+5G>A
NM_018676.4(THSD1):c.1619dup (p.Met540fs) rs2137721052
NM_021871.4(FGA):c.1048G>A (p.Gly350Arg)
NM_021871.4(FGA):c.475G>A (p.Val159Ile)
NM_021999.5(ITM2B):c.193C>T (p.Leu65Phe) rs1951769958
NM_021999.5(ITM2B):c.50A>G (p.Lys17Arg) rs1951647457
NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg) rs150336652
NM_024656.4(COLGALT1):c.1355T>C (p.Met452Thr)
NM_024656.4(COLGALT1):c.385G>A (p.Glu129Lys)
NM_024656.4(COLGALT1):c.513C>G (p.Ile171Met)
NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser) rs1784229890
NM_033305.3(VPS13A):c.9257T>C (p.Met3086Thr) rs753597538
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.