ClinVar Miner

List of variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.*338A>C rs7247906 0.90792
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_000435.3(NOTCH3):c.*890C>T rs1044123 0.68217
NM_000435.3(NOTCH3):c.*808G>A rs1044116 0.68208
NM_000435.3(NOTCH3):c.*668G>T rs1044055 0.68206
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000435.3(NOTCH3):c.*563T>C rs77669983 0.03615
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) rs61731975 0.02703
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_000435.3(NOTCH3):c.*837G>A rs12082 0.02010
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974 0.01445
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_000435.3(NOTCH3):c.*23T>A rs73504084 0.00989
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_000435.3(NOTCH3):c.*96C>T rs117165744 0.00826
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.*370A>G rs139792065 0.00734
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=) rs34480308 0.00591
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000435.3(NOTCH3):c.*544C>T rs368577217 0.00387
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_000435.3(NOTCH3):c.*4G>A rs182111655 0.00356
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416 0.00287
NM_000435.3(NOTCH3):c.*85G>T rs185310376 0.00248
NM_000435.3(NOTCH3):c.*937T>C rs16980378 0.00239
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.*463G>A rs145095999 0.00192
NM_000435.3(NOTCH3):c.3718+13G>T rs201077354 0.00188
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000435.3(NOTCH3):c.*845G>T rs571584841 0.00123
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00118
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744 0.00064
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00048
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00046
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.*306C>T rs181930934 0.00036
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.*3C>T rs202157455 0.00030
NM_000435.3(NOTCH3):c.*517C>T rs532350128 0.00030
NM_000435.3(NOTCH3):c.*717C>G rs3087938 0.00029
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695 0.00025
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) rs143411026 0.00024
NM_000435.3(NOTCH3):c.850G>A (p.Ala284Thr) rs149307620 0.00024
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) rs145049433 0.00021
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) rs754545176 0.00019
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028 0.00019
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) rs142787620 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.1677C>T (p.Cys559=) rs113216024 0.00013
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) rs374767079 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_000435.3(NOTCH3):c.3645C>T (p.His1215=) rs773203358 0.00011
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692 0.00011
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.*656T>C rs754043656 0.00009
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg) rs777645491 0.00009
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078 0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413 0.00009
NM_000435.3(NOTCH3):c.*382T>G rs886054250 0.00008
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) rs146055867 0.00008
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084 0.00008
NM_000435.3(NOTCH3):c.-57G>A rs1193874164 0.00007
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852 0.00007
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) rs372834264 0.00007
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His) rs751284168 0.00005
NM_000435.3(NOTCH3):c.2280C>T (p.Cys760=) rs754147124 0.00005
NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=) rs182623173 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888 0.00004
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) rs372688320 0.00004
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser) rs372833545 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=) rs372158498 0.00003
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala) rs1301248585 0.00003
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191 0.00003
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 0.00003
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) rs764620593 0.00003
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val) rs763603215 0.00003
NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=) rs200415679 0.00003
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000435.3(NOTCH3):c.2519G>A (p.Gly840Glu) rs771561644 0.00002
NM_000435.3(NOTCH3):c.3461-15C>T rs564737009 0.00002
NM_000435.3(NOTCH3):c.438C>T (p.Cys146=) rs774042167 0.00002
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) rs1336048311 0.00002
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) rs200883235 0.00002
NM_000435.3(NOTCH3):c.6174G>A (p.Ser2058=) rs1304790357 0.00002
NM_000435.3(NOTCH3):c.*279C>T rs2046630018 0.00001
NM_000435.3(NOTCH3):c.*608C>T rs577953923 0.00001
NM_000435.3(NOTCH3):c.-47C>G rs886054262 0.00001
NM_000435.3(NOTCH3):c.1334C>T (p.Thr445Met) rs1446147181 0.00001
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe) rs1210611177 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.2792+6C>T rs376329316 0.00001
NM_000435.3(NOTCH3):c.3327+11G>A rs777978969 0.00001
NM_000435.3(NOTCH3):c.3718+7G>A rs753987937 0.00001
NM_000435.3(NOTCH3):c.3837+11G>A rs752485887 0.00001
NM_000435.3(NOTCH3):c.415G>A (p.Asp139Asn) rs777257132 0.00001
NM_000435.3(NOTCH3):c.4444G>C (p.Gly1482Arg) rs202085803 0.00001
NM_000435.3(NOTCH3):c.5137C>T (p.Leu1713=) rs1339687395 0.00001
NM_000435.3(NOTCH3):c.5336G>A (p.Gly1779Asp) rs771041592 0.00001
NM_000435.3(NOTCH3):c.5484G>A (p.Gly1828=) rs769445841 0.00001
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) rs202027632 0.00001
NM_000435.3(NOTCH3):c.5548G>A (p.Ala1850Thr) rs756939819 0.00001
NM_000435.3(NOTCH3):c.5705G>A (p.Arg1902His) rs755817475 0.00001
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237 0.00001
NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr) rs556851818 0.00001
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp) rs199995195 0.00001
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=) rs890365920 0.00001
NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn) rs779247987 0.00001
NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=) rs775043966 0.00001
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=) rs766045217 0.00001
NM_000435.3(NOTCH3):c.*354_*355dup rs59869411
NM_000435.3(NOTCH3):c.1192+14C>T rs761651631
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) rs775259883
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.15C>T (p.Ala5=) rs2047007824
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) rs751758366
NM_000435.3(NOTCH3):c.2163G>A (p.Glu721=) rs375173938
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.2793-14T>C rs886054258
NM_000435.3(NOTCH3):c.2900T>C (p.Leu967Pro) rs1384597990
NM_000435.3(NOTCH3):c.2906G>A (p.Arg969Gln) rs146214060
NM_000435.3(NOTCH3):c.2T>A (p.Met1Lys) rs2047007942
NM_000435.3(NOTCH3):c.3230C>T (p.Thr1077Ile) rs775809529
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) rs781765705
NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln) rs369213011
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) rs886054257
NM_000435.3(NOTCH3):c.3930G>T (p.Gly1310=) rs1459394189
NM_000435.3(NOTCH3):c.3964C>T (p.Pro1322Ser) rs1438155304
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) rs886054256
NM_000435.3(NOTCH3):c.4227C>T (p.Gly1409=) rs1014371988
NM_000435.3(NOTCH3):c.4426G>A (p.Ala1476Thr) rs886054255
NM_000435.3(NOTCH3):c.4427C>T (p.Ala1476Val) rs886054254
NM_000435.3(NOTCH3):c.5363-5T>G rs2046683567
NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu) rs1250718112
NM_000435.3(NOTCH3):c.5668-11C>T rs199850662
NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His) rs369768722
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) rs886054253
NM_000435.3(NOTCH3):c.5926C>T (p.Leu1976=) rs2046645523
NM_000435.3(NOTCH3):c.593C>T (p.Ala198Val) rs140914494
NM_000435.3(NOTCH3):c.5952C>T (p.Ser1984=) rs773935272
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=) rs2047007301
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) rs886054252
NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala) rs2046632682
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) rs886054261

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