ClinVar Miner

List of variants in gene NOTCH3 reported as pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP
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.1204T>A (p.Cys402Ser) rs1568360524
NM_000435.3(NOTCH3):c.1255T>G (p.Cys419Gly) rs1555729070
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
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.1283G>A (p.Cys428Tyr) rs1568360455
NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe) rs1568360410
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.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr) rs1568360142
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.1597T>C (p.Cys533Arg) rs1555728898
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr) rs1555728814
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.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly) rs1555730177
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.200G>T (p.Cys67Phe) rs1555729615
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.245G>T (p.Cys82Phe) rs1023306013
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.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.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.3062A>G (p.Tyr1021Cys) rs1167405466
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.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607
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.3356G>A (p.Cys1119Tyr) rs1266914122
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.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.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
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.544C>T (p.Arg182Cys) rs28933697
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>C (p.Cys185Arg) 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.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg) rs1568361818
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser) rs1555729455
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr) rs1555729451
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.994C>T (p.Arg332Cys) rs137852641

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