ClinVar Miner

List of variants in gene NOTCH3 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00002
NM_000435.3(NOTCH3):c.1010A>G (p.Tyr337Cys) rs2046925676 0.00001
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032 0.00001
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys) rs963416165 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.3696C>G (p.Cys1232Trp) rs1376921184 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg) rs1568361844 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.1019G>A (p.Cys340Tyr)
NM_000435.3(NOTCH3):c.1117G>T (p.Gly373Cys) rs1435305678
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly) rs1555729105
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys) rs2145437046
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser) rs1568360524
NM_000435.3(NOTCH3):c.1223G>A (p.Cys408Tyr) rs2145436468
NM_000435.3(NOTCH3):c.1241C>G (p.Ser414Cys) rs2145436403
NM_000435.3(NOTCH3):c.1255T>G (p.Cys419Gly) rs1555729070
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys) rs1555729068
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys) rs1555729064
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg) rs267606915
NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr) rs1568360455
NM_000435.3(NOTCH3):c.1283G>T (p.Cys428Phe) rs1568360455
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.3(NOTCH3):c.128G>T (p.Cys43Phe)
NM_000435.3(NOTCH3):c.128_129delinsAT (p.Cys43Tyr) rs2512672832
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr) rs2145436195
NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe) rs1568360410
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser) rs28933698
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1364G>T (p.Cys455Phe) rs886041513
NM_000435.3(NOTCH3):c.1369T>C (p.Cys457Arg) rs2512661018
NM_000435.3(NOTCH3):c.1369T>G (p.Cys457Gly) rs2512661018
NM_000435.3(NOTCH3):c.1370G>A (p.Cys457Tyr) rs2512661013
NM_000435.3(NOTCH3):c.1370G>C (p.Cys457Ser)
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr) rs1568360142
NM_000435.3(NOTCH3):c.1450T>A (p.Cys484Ser) rs1555728965
NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr) rs1313319587
NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe) rs1313319587
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr) rs193921045
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe) rs193921045
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp) rs2046897516
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser) rs2046897246
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
NM_000435.3(NOTCH3):c.1532G>A (p.Cys511Tyr) rs2046897213
NM_000435.3(NOTCH3):c.1533C>G (p.Cys511Trp) rs1295357202
NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe) rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser) rs2046896882
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp) rs1193624610
NM_000435.3(NOTCH3):c.1582G>T (p.Gly528Cys) rs2512659319
NM_000435.3(NOTCH3):c.1591T>G (p.Cys531Gly) rs2145434233
NM_000435.3(NOTCH3):c.1597T>C (p.Cys533Arg) rs1555728898
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg) rs2145433361
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg) rs1568363980
NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr) rs1555728814
NM_000435.3(NOTCH3):c.1646G>C (p.Cys549Ser) rs1555728814
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1669G>T (p.Gly557Cys) rs1317994194
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1736G>A (p.Cys579Tyr) rs2145433000
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg) rs2512657590
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg) rs2145432499
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly) rs1555730177
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.199T>A (p.Cys67Ser) rs2145443955
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys) rs2145443744
NM_000435.3(NOTCH3):c.213G>C (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser) rs1555729610
NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg) rs1555729610
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) rs1568362252
NM_000435.3(NOTCH3):c.244T>C (p.Cys82Arg) rs2046937845
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly) rs2046937845
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2565del (p.Asn856fs)
NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg) rs1568362232
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.278G>A (p.Cys93Tyr) rs2145443364
NM_000435.3(NOTCH3):c.2798G>T (p.Cys933Phe) rs2512646581
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys) rs995523352
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly) rs1555727960
NM_000435.3(NOTCH3):c.3009G>T (p.Trp1003Cys) rs1241704923
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr) rs1555727944
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.3026G>A (p.Cys1009Tyr) rs1217205469
NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys) rs376682593
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe) rs1555727938
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe) rs1555727930
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg) rs1555729589
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys) rs2512644040
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.322T>A (p.Cys108Ser) rs2145443048
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr) rs1555729584
NM_000435.3(NOTCH3):c.323G>T (p.Cys108Phe) rs1555729584
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.3409T>C (p.Cys1137Arg) rs2145418962
NM_000435.3(NOTCH3):c.341-2A>G rs2046935672
NM_000435.3(NOTCH3):c.341-2A>T rs2046935672
NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg) rs1555729554
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly) rs1555729554
NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr) rs773539041
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe) rs773539041
NM_000435.3(NOTCH3):c.353C>G (p.Ser118Cys) rs1469620436
NM_000435.3(NOTCH3):c.3628C>T (p.Arg1210Cys) rs758961316
NM_000435.3(NOTCH3):c.368G>T (p.Cys123Phe) rs2046935167
NM_000435.3(NOTCH3):c.3925C>T (p.Arg1309Cys) rs1402176902
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser) rs1486702985
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr) rs1568361985
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe) rs1568361985
NM_000435.3(NOTCH3):c.4328_4340dup (p.Ser1447fs)
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys) rs2145442191
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.484T>C (p.Cys162Arg) rs2145441998
NM_000435.3(NOTCH3):c.502T>A (p.Cys168Ser) rs1212814399
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.520T>A (p.Cys174Ser) rs1599394806
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.521G>T (p.Cys174Phe) rs1555729486
NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr) rs1568361851
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.553T>G (p.Cys185Gly) rs1568361844
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr) rs1555729477
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe) rs1555729477
NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys) rs2145441610
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe) rs2145441541
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser) rs1555729468
NM_000435.3(NOTCH3):c.602G>T (p.Cys201Phe) rs1555729468
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser) rs1555729455
NM_000435.3(NOTCH3):c.634T>G (p.Cys212Gly) rs1555729455
NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs) rs1555725058
NM_000435.3(NOTCH3):c.6560_6563dup (p.Leu2189fs) rs1599359388
NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter) rs935487877
NM_000435.3(NOTCH3):c.664T>C (p.Cys222Arg) rs2512665397
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.665G>C (p.Cys222Ser) rs1555729452
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr) rs1555729451
NM_000435.3(NOTCH3):c.671G>T (p.Cys224Phe)
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.719G>C (p.Cys240Ser)
NM_000435.3(NOTCH3):c.733T>A (p.Cys245Ser)
NM_000435.3(NOTCH3):c.751T>A (p.Cys251Ser) rs1568361608
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr) rs1555729405
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe) rs2046928618
NM_000435.3(NOTCH3):c.811T>C (p.Cys271Arg) rs2046927630
NM_000435.3(NOTCH3):c.812G>T (p.Cys271Phe)
NM_000435.3(NOTCH3):c.931T>G (p.Cys311Gly) rs781158121
NM_000435.3(NOTCH3):c.932G>A (p.Cys311Tyr) rs1555729346
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.955_956delinsTG (p.Ala319Cys) rs2145439810
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777
NM_000435.3(NOTCH3):c.968G>A (p.Cys323Tyr) rs2145439776
NM_000435.3(NOTCH3):c.985T>C (p.Cys329Arg)
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr) rs2046925963
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641

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