ClinVar Miner

List of variants in gene NOTCH3 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
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.2038C>T (p.Arg680Cys) rs1250956327 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.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys) rs867379493 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.1013G>T (p.Cys338Phe)
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly) rs1555729105
NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser) rs1599391986
NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg) rs1599391938
NM_000435.3(NOTCH3):c.1184G>A (p.Cys395Tyr)
NM_000435.3(NOTCH3):c.1216G>T (p.Gly406Cys) rs2046907944
NM_000435.3(NOTCH3):c.1235A>G (p.Gln412Arg) rs1131691934
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg)
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
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.1432T>A (p.Cys478Ser) rs2046900264
NM_000435.3(NOTCH3):c.1441G>T (p.Gly481Cys) rs1263780227
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly) rs1555728965
NM_000435.3(NOTCH3):c.1510T>G (p.Cys504Gly)
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr) rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1625G>A (p.Cys542Tyr)
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr) rs2145433195
NM_000435.3(NOTCH3):c.169C>T (p.Gln57Ter)
NM_000435.3(NOTCH3):c.1702T>C (p.Cys568Arg)
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.1791C>G (p.Cys597Trp)
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1823G>A (p.Cys608Tyr) rs778350156
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) rs753801611
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
NM_000435.3(NOTCH3):c.2126G>A (p.Cys709Tyr) rs1599387121
NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)
NM_000435.3(NOTCH3):c.2228G>A (p.Cys743Tyr)
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) rs1568362252
NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)
NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.265G>T (p.Gly89Cys)
NM_000435.3(NOTCH3):c.2701T>C (p.Cys901Arg) rs2046843049
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys)
NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)
NM_000435.3(NOTCH3):c.2903C>A (p.Ser968Ter)
NM_000435.3(NOTCH3):c.2929T>C (p.Cys977Arg) rs2046836342
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.2956T>G (p.Cys986Gly) rs763321998
NM_000435.3(NOTCH3):c.2970_2971delinsTT (p.Glu990_Ser991delinsAspCys) rs2145422649
NM_000435.3(NOTCH3):c.29_53del (p.Arg10fs)
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) rs1241704923
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.316T>A (p.Cys106Ser)
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly) rs1555729589
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.318C>G (p.Cys106Trp) rs774698706
NM_000435.3(NOTCH3):c.322T>C (p.Cys108Arg)
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr) rs1555729584
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) rs200881673
NM_000435.3(NOTCH3):c.3571T>C (p.Cys1191Arg)
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.3783C>G (p.Cys1261Trp)
NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg) rs2046934971
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) rs1568362039
NM_000435.3(NOTCH3):c.3878G>T (p.Cys1293Phe) rs2046807371
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr) rs1432396805
NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu) rs151016108
NM_000435.3(NOTCH3):c.430T>C (p.Cys144Arg) rs2046934287
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys)
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) rs2046933681
NM_000435.3(NOTCH3):c.484T>G (p.Cys162Gly)
NM_000435.3(NOTCH3):c.485G>T (p.Cys162Phe) rs2145441996
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.5115-12_5137del
NM_000435.3(NOTCH3):c.512_605delinsA (p.Gly171_Ala202delinsGlu) rs2046931882
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg) rs2145441707
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr) rs1555729477
NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp) rs2046932414
NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs) rs1555725170
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly) rs1599394654
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.617G>A (p.Cys206Tyr)
NM_000435.3(NOTCH3):c.6299C>A (p.Ser2100Ter) rs2145382111
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs) rs773656789
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000435.3(NOTCH3):c.709G>T (p.Val237Leu)
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.752G>T (p.Cys251Phe) 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.798G>T (p.Trp266Cys) rs2046928465
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys) rs1253499013
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys) rs2046926886
NM_000435.3(NOTCH3):c.932G>A (p.Cys311Tyr)
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.3(NOTCH3):c.954T>G (p.Cys318Trp) rs2145439818
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777

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