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

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 92

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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.128G>A (p.Cys43Tyr)	rs1555730204
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.1364G>T (p.Cys455Phe)	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.1532G>A (p.Cys511Tyr)
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.163T>C (p.Cys55Arg)	rs1568363980
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.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.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.353C>G (p.Ser118Cys)	rs1469620436
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)	rs199638166
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.520T>A (p.Cys174Ser)
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.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.665G>A (p.Cys222Tyr)	rs1555729452
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	rs869312911
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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