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

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

Total variants: 106

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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.1594C>T (p.Arg532Cys)	rs1202763005	0.00001
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.1144G>T (p.Gly382Cys)	rs2145437046
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.1279C>T (p.Arg427Cys)	rs1599391536
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.145T>G (p.Cys49Gly)	rs1555730197
NM_000435.3(NOTCH3):c.1492+1G>A
NM_000435.3(NOTCH3):c.1510T>G (p.Cys504Gly)
NM_000435.3(NOTCH3):c.1511G>A (p.Cys504Tyr)
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr)	rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
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.1720_1755delinsCTG (p.Tyr574_Glu585delinsLeu)
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.1817G>A (p.Cys606Tyr)
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>A (p.Cys65Tyr)	rs1555730176
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.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys)	rs2145443744
NM_000435.3(NOTCH3):c.2228G>A (p.Cys743Tyr)
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.2752G>T (p.Gly918Cys)
NM_000435.3(NOTCH3):c.2876G>C (p.Cys959Ser)
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.3009G>C (p.Trp1003Cys)	rs1241704923
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)	rs1599382214
NM_000435.3(NOTCH3):c.3045C>G (p.Cys1015Trp)
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)	rs2046832726
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)	rs1285584068
NM_000435.3(NOTCH3):c.316T>A (p.Cys106Ser)
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.349T>G (p.Cys117Gly)	rs1555729554
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.3783C>G (p.Cys1261Trp)
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.430T>C (p.Cys144Arg)	rs2046934287
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe)	rs1236699193
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys)
NM_000435.3(NOTCH3):c.484T>A (p.Cys162Ser)
NM_000435.3(NOTCH3):c.484T>G (p.Cys162Gly)
NM_000435.3(NOTCH3):c.485G>T (p.Cys162Phe)	rs2145441996
NM_000435.3(NOTCH3):c.512_605delinsA (p.Gly171_Ala202delinsGlu)	rs2046931882
NM_000435.3(NOTCH3):c.522C>G (p.Cys174Trp)
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg)	rs2145441707
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe)	rs1555729477
NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs)	rs1555725170
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.6530dup (p.Pro2178fs)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)	rs1555729452
NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	rs773656789
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)	rs1599394351
NM_000435.3(NOTCH3):c.733T>A (p.Cys245Ser)
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)	rs947976672
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>T (p.Cys311Phe)	rs1555729346
NM_000435.3(NOTCH3):c.954T>G (p.Cys318Trp)	rs2145439818

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