List of variants in gene NOTCH3 reported as uncertain significance for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

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: 145

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)	rs55882518	0.00433
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=)	rs542856470	0.00118
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	rs201680145	0.00089
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser)	rs751951476	0.00059
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val)	rs150037063	0.00043
NM_000435.3(NOTCH3):c.*306C>T	rs181930934	0.00036
NM_000435.3(NOTCH3):c.*517C>T	rs532350128	0.00030
NM_000435.3(NOTCH3):c.*717C>G	rs3087938	0.00029
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)	rs144935367	0.00024
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)	rs141956294	0.00023
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)	rs370422650	0.00019
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser)	rs754545176	0.00019
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr)	rs374767079	0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)	rs199620476	0.00013
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)	rs199638166	0.00011
NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln)	rs145069047	0.00010
NM_000435.3(NOTCH3):c.*656T>C	rs754043656	0.00009
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg)	rs777645491	0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln)	rs759896413	0.00009
NM_000435.3(NOTCH3):c.*382T>G	rs886054250	0.00008
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)	rs771803651	0.00008
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)	rs143684274	0.00008
NM_000435.3(NOTCH3):c.-57G>A	rs1193874164	0.00007
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)	rs778715118	0.00006
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)	rs544773641	0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)	rs367707092	0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)	rs753170185	0.00006
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His)	rs751284168	0.00005
NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=)	rs182623173	0.00005
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)	rs752995216	0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)	rs200881673	0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)	rs371491165	0.00005
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)	rs1337328035	0.00005
NM_000435.3(NOTCH3):c.1036+10C>T	rs776962888	0.00004
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=)	rs372688320	0.00004
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser)	rs372833545	0.00004
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala)	rs1301248585	0.00003
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu)	rs758913191	0.00003
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=)	rs530503488	0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)	rs149222385	0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=)	rs758307531	0.00003
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=)	rs764620593	0.00003
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val)	rs763603215	0.00003
NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=)	rs200415679	0.00003
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr)	rs370186772	0.00002
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)	rs770737365	0.00002
NM_000435.3(NOTCH3):c.2254G>A (p.Asp752Asn)	rs377521258	0.00002
NM_000435.3(NOTCH3):c.2519G>A (p.Gly840Glu)	rs771561644	0.00002
NM_000435.3(NOTCH3):c.438C>T (p.Cys146=)	rs774042167	0.00002
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr)	rs1336048311	0.00002
NM_000435.3(NOTCH3):c.6174G>A (p.Ser2058=)	rs1304790357	0.00002
NM_000435.3(NOTCH3):c.*279C>T	rs2046630018	0.00001
NM_000435.3(NOTCH3):c.*608C>T	rs577953923	0.00001
NM_000435.3(NOTCH3):c.-47C>G	rs886054262	0.00001
NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu)	rs1311684711	0.00001
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)	rs766139231	0.00001
NM_000435.3(NOTCH3):c.1334C>T (p.Thr445Met)	rs1446147181	0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)	rs142031490	0.00001
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met)	rs755398328	0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)	rs148166997	0.00001
NM_000435.3(NOTCH3):c.1595G>A (p.Arg532His)	rs749628786	0.00001
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe)	rs1210611177	0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)	rs770146452	0.00001
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)	rs768867865	0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser)	rs886054259	0.00001
NM_000435.3(NOTCH3):c.3307A>G (p.Met1103Val)	rs370829581	0.00001
NM_000435.3(NOTCH3):c.4444G>C (p.Gly1482Arg)	rs202085803	0.00001
NM_000435.3(NOTCH3):c.5137C>T (p.Leu1713=)	rs1339687395	0.00001
NM_000435.3(NOTCH3):c.5336G>A (p.Gly1779Asp)	rs771041592	0.00001
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln)	rs202027632	0.00001
NM_000435.3(NOTCH3):c.5548G>A (p.Ala1850Thr)	rs756939819	0.00001
NM_000435.3(NOTCH3):c.5705G>A (p.Arg1902His)	rs755817475	0.00001
NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr)	rs556851818	0.00001
NM_000435.3(NOTCH3):c.6217G>C (p.Gly2073Arg)	rs1250159597	0.00001
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp)	rs199995195	0.00001
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=)	rs890365920	0.00001
NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn)	rs779247987	0.00001
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=)	rs766045217	0.00001
NM_000435.3(NOTCH3):c.354_355dup	rs59869411
NM_000435.3(NOTCH3):c.1074C>A (p.Asn358Lys)
NM_000435.3(NOTCH3):c.1192+14C>T	rs761651631
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)	rs146904189
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly)	rs775259883
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys)	rs886054260
NM_000435.3(NOTCH3):c.1427G>A (p.Ser476Asn)
NM_000435.3(NOTCH3):c.1478G>C (p.Cys493Ser)	rs2145434878
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.15C>T (p.Ala5=)	rs2047007824
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)	rs2145433361
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)	rs758997426
NM_000435.3(NOTCH3):c.1927T>G (p.Cys643Gly)
NM_000435.3(NOTCH3):c.1952-6C>T	rs2046876259
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=)	rs751758366
NM_000435.3(NOTCH3):c.2142C>T (p.Gly714=)	rs369579579
NM_000435.3(NOTCH3):c.2188A>C (p.Ser730Arg)
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)	rs894374843
NM_000435.3(NOTCH3):c.2410+7C>T	rs766705336
NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg)	rs150338460
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys)	rs2145423783
NM_000435.3(NOTCH3):c.2793-14T>C	rs886054258
NM_000435.3(NOTCH3):c.2900T>C (p.Leu967Pro)	rs1384597990
NM_000435.3(NOTCH3):c.2906G>A (p.Arg969Gln)	rs146214060
NM_000435.3(NOTCH3):c.298G>A (p.Gly100Ser)
NM_000435.3(NOTCH3):c.2T>A (p.Met1Lys)	rs2047007942
NM_000435.3(NOTCH3):c.3230C>T (p.Thr1077Ile)	rs775809529
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn)	rs781765705
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.3506C>A (p.Pro1169Gln)	rs1160108455
NM_000435.3(NOTCH3):c.3536A>G (p.Asn1179Ser)
NM_000435.3(NOTCH3):c.3545G>A (p.Cys1182Tyr)	rs1599380389
NM_000435.3(NOTCH3):c.3734C>G (p.Thr1245Ser)	rs2046814915
NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln)	rs369213011
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.3872G>C (p.Arg1291Pro)	rs2046807438
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)	rs767150916
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=)	rs886054257
NM_000435.3(NOTCH3):c.3930G>T (p.Gly1310=)	rs1459394189
NM_000435.3(NOTCH3):c.3964C>T (p.Pro1322Ser)	rs1438155304
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg)	rs1344432803
NM_000435.3(NOTCH3):c.403T>C (p.Ser135Pro)	rs2145442354
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=)	rs886054256
NM_000435.3(NOTCH3):c.4298_4299delinsAT (p.Cys1433Tyr)
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg)	rs776057654
NM_000435.3(NOTCH3):c.4426G>A (p.Ala1476Thr)	rs886054255
NM_000435.3(NOTCH3):c.4427C>T (p.Ala1476Val)	rs886054254
NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)
NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)
NM_000435.3(NOTCH3):c.5081G>A (p.Arg1694Gln)
NM_000435.3(NOTCH3):c.5363-5T>G	rs2046683567
NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu)	rs1250718112
NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His)	rs369768722
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val)	rs886054253
NM_000435.3(NOTCH3):c.5926C>T (p.Leu1976=)	rs2046645523
NM_000435.3(NOTCH3):c.5952C>T (p.Ser1984=)	rs773935272
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=)	rs2047007301
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg)	rs886054252
NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)	rs1366113655
NM_000435.3(NOTCH3):c.679+15C>T	rs759323108
NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala)	rs2046632682
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys)	rs1253499013
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val)	rs886054261
NM_000435.3(NOTCH3):c.955G>C (p.Ala319Pro)	rs2046926428

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