ClinVar Miner

List of variants reported as uncertain significance for CADASIL 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_000435.3(NOTCH3):c.*279C>T
NM_000435.3(NOTCH3):c.*306C>T
NM_000435.3(NOTCH3):c.*354_*355dup rs59869411
NM_000435.3(NOTCH3):c.*382T>G rs886054250
NM_000435.3(NOTCH3):c.*517C>T
NM_000435.3(NOTCH3):c.*608C>T rs577953923
NM_000435.3(NOTCH3):c.*656T>C
NM_000435.3(NOTCH3):c.*717C>G
NM_000435.3(NOTCH3):c.-47C>G rs886054262
NM_000435.3(NOTCH3):c.-57G>A
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888
NM_000435.3(NOTCH3):c.1192+14C>T rs761651631
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)
NM_000435.3(NOTCH3):c.1334C>T (p.Thr445Met)
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr)
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly)
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.15C>T (p.Ala5=)
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His) rs751284168
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe)
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) rs751758366
NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=) rs182623173
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala)
NM_000435.3(NOTCH3):c.2519G>A (p.Gly840Glu)
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650
NM_000435.3(NOTCH3):c.2793-14T>C rs886054258
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) rs754545176
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg) rs777645491
NM_000435.3(NOTCH3):c.2900T>C (p.Leu967Pro)
NM_000435.3(NOTCH3):c.2906G>A (p.Arg969Gln)
NM_000435.3(NOTCH3):c.2T>A (p.Met1Lys)
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) rs372688320
NM_000435.3(NOTCH3):c.3230C>T (p.Thr1077Ile)
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) rs781765705
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673
NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln)
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) rs886054257
NM_000435.3(NOTCH3):c.3930G>T (p.Gly1310=)
NM_000435.3(NOTCH3):c.3964C>T (p.Pro1322Ser)
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg)
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) rs886054256
NM_000435.3(NOTCH3):c.4227C>T (p.Gly1409=)
NM_000435.3(NOTCH3):c.438C>T (p.Cys146=)
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.4444G>C (p.Gly1482Arg) rs202085803
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
NM_000435.3(NOTCH3):c.5137C>T (p.Leu1713=)
NM_000435.3(NOTCH3):c.5336G>A (p.Gly1779Asp)
NM_000435.3(NOTCH3):c.5363-5T>G
NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu)
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr)
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) rs202027632
NM_000435.3(NOTCH3):c.5548G>A (p.Ala1850Thr)
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=)
NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His)
NM_000435.3(NOTCH3):c.5705G>A (p.Arg1902His)
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) rs886054253
NM_000435.3(NOTCH3):c.5926C>T (p.Leu1976=)
NM_000435.3(NOTCH3):c.5952C>T (p.Ser1984=)
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) rs764620593
NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr) rs556851818
NM_000435.3(NOTCH3):c.6174G>A (p.Ser2058=)
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val)
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp)
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser)
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=)
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=)
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) rs886054252
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476
NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=) rs200415679
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185
NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn)
NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala)
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=)
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) rs886054261

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