ClinVar Miner

List of variants in gene NOTCH3 studied for CADASIL

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP
NM_000435.3(NOTCH3):c.*23T>A rs73504084
NM_000435.3(NOTCH3):c.*338A>C rs7247906
NM_000435.3(NOTCH3):c.*354_*355dup rs59869411
NM_000435.3(NOTCH3):c.*370A>G rs139792065
NM_000435.3(NOTCH3):c.*382T>G rs886054250
NM_000435.3(NOTCH3):c.*544C>T rs368577217
NM_000435.3(NOTCH3):c.*563T>C rs77669983
NM_000435.3(NOTCH3):c.*608C>T rs577953923
NM_000435.3(NOTCH3):c.*668G>T rs1044055
NM_000435.3(NOTCH3):c.*808G>A rs1044116
NM_000435.3(NOTCH3):c.*837G>A rs12082
NM_000435.3(NOTCH3):c.*845G>T rs571584841
NM_000435.3(NOTCH3):c.*890C>T rs1044123
NM_000435.3(NOTCH3):c.*937T>C rs16980378
NM_000435.3(NOTCH3):c.*96C>T rs117165744
NM_000435.3(NOTCH3):c.-47C>G rs886054262
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1192+14C>T rs761651631
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) rs267606915
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) rs374767079
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) rs142787620
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) rs864621964
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) rs751758366
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259
NM_000435.3(NOTCH3):c.2411-1G>T rs864621966
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997
NM_000435.3(NOTCH3):c.2792+6C>T rs376329316
NM_000435.3(NOTCH3):c.2793-14T>C rs886054258
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) rs754545176
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) rs372688320
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) rs781765705
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) rs886054257
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) rs886054256
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
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.4444G>C (p.Gly1482Arg) rs202085803
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=) rs34480308
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) rs202027632
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) rs200883235
NM_000435.3(NOTCH3):c.5668-11C>T rs199850662
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) rs372834264
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) rs886054253
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) rs764620593
NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr) rs556851818
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) rs886054252
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) rs61731975
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) rs864621965
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) rs886054261
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NOTCH3, ARG141CYS

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