ClinVar Miner

List of variants in gene NOTCH3 studied for not specified

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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NM_000435.3(NOTCH3):c.*4G>A rs182111655
NM_000435.3(NOTCH3):c.1102A>G (p.Thr368Ala) rs1555729115
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490
NM_000435.3(NOTCH3):c.1342G>C (p.Asp448His) rs1555729048
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
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.1493-8C>T rs201202842
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665
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.1729A>G (p.Thr577Ala) rs368181126
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356
NM_000435.3(NOTCH3):c.1801G>T (p.Val601Leu) rs904239617
NM_000435.3(NOTCH3):c.1840+19G>A rs886038298
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133
NM_000435.3(NOTCH3):c.1951+38C>G rs78329155
NM_000435.3(NOTCH3):c.1952-23G>A rs147014533
NM_000435.3(NOTCH3):c.1952-32T>G rs137877808
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met) rs560752299
NM_000435.3(NOTCH3):c.197+23C>A rs202151374
NM_000435.3(NOTCH3):c.197+24C>G rs188132716
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.2070A>G (p.Pro690=) rs370780913
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179
NM_000435.3(NOTCH3):c.2296+8C>T rs375460301
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259
NM_000435.3(NOTCH3):c.2411-11C>A rs201130717
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286
NM_000435.3(NOTCH3):c.2432T>C (p.Val811Ala) rs373367879
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996
NM_000435.3(NOTCH3):c.2645C>G (p.Pro882Arg) rs760472019
NM_000435.3(NOTCH3):c.2657G>A (p.Arg886His) rs1275201697
NM_000435.3(NOTCH3):c.2682C>T (p.Asn894=) rs138245070
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2732C>A (p.Thr911Asn) rs756288782
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+21G>A rs11669982
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023
NM_000435.3(NOTCH3):c.2978C>T (p.Thr993Met) rs371278091
NM_000435.3(NOTCH3):c.300C>G (p.Gly100=) rs764852292
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.3143-29C>T rs137943075
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly) rs1555729589
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217
NM_000435.3(NOTCH3):c.3524G>C (p.Arg1175Pro) rs752282553
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile) rs150811543
NM_000435.3(NOTCH3):c.3639C>T (p.Ala1213=) rs374239471
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190
NM_000435.3(NOTCH3):c.3725G>A (p.Arg1242His) rs146149484
NM_000435.3(NOTCH3):c.3837+21T>A rs11670823
NM_000435.3(NOTCH3):c.3961G>A (p.Gly1321Arg) rs1030392985
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.3983C>T (p.Pro1328Leu) rs1239435396
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup) rs1555727412
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.4191G>T (p.Gly1397=) rs886038299
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
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.4585_4586delinsAA (p.Ala1529Asn)
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641
NM_000435.3(NOTCH3):c.4736+23G>C rs1599374263
NM_000435.3(NOTCH3):c.4737-19C>T rs180755159
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092
NM_000435.3(NOTCH3):c.4891+23G>C rs56277836
NM_000435.3(NOTCH3):c.4892-22G>T rs2074620
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.5114+10C>G rs369547319
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447
NM_000435.3(NOTCH3):c.5315A>C (p.Gln1772Pro) rs1555725846
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619
NM_000435.3(NOTCH3):c.5363-21G>A rs10416777
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416
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.545G>A (p.Arg182His) rs767175703
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398
NM_000435.3(NOTCH3):c.5569C>T (p.Arg1857Trp) rs752169336
NM_000435.3(NOTCH3):c.5815+36G>A rs2074618
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100
NM_000435.3(NOTCH3):c.5913+28T>G rs4809029
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly) rs1599394654
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
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.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008
NM_000435.3(NOTCH3):c.6504G>C (p.Val2168=) rs546608637
NM_000435.3(NOTCH3):c.6573G>A (p.Pro2191=) rs576653145
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654
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.6802G>A (p.Glu2268Lys) rs996150018
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000435.3(NOTCH3):c.741T>G (p.Asn247Lys) rs1555729409

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