ClinVar Miner

List of variants reported as likely benign 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: 42
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HGVS dbSNP
NM_000435.3(NOTCH3):c.*3C>T rs202157455
NM_000435.3(NOTCH3):c.*563T>C rs77669983
NM_000435.3(NOTCH3):c.*937T>C rs16980378
NM_000435.3(NOTCH3):c.*96C>T rs117165744
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=)
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=)
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) rs142787620
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.2280C>T (p.Cys760=)
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060
NM_000435.3(NOTCH3):c.3645C>T (p.His1215=) rs773203358
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852
NM_000435.3(NOTCH3):c.3718+7G>A
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190
NM_000435.3(NOTCH3):c.3837+11G>A
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.415G>A (p.Asp139Asn)
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) rs143411026
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028
NM_000435.3(NOTCH3):c.5484G>A (p.Gly1828=)
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) rs200883235
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874
NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=)
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) rs145049433
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695

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