ClinVar Miner

List of variants reported as likely benign for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.*563T>C rs77669983 0.03615
NM_000435.3(NOTCH3):c.*96C>T rs117165744 0.00826
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_000435.3(NOTCH3):c.*937T>C rs16980378 0.00239
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744 0.00064
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00048
NM_000435.3(NOTCH3):c.*3C>T rs202157455 0.00030
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695 0.00025
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) rs143411026 0.00024
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) rs145049433 0.00021
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028 0.00019
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) rs142787620 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_000435.3(NOTCH3):c.3645C>T (p.His1215=) rs773203358 0.00011
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692 0.00011
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078 0.00009
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) rs146055867 0.00008
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084 0.00008
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852 0.00007
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000435.3(NOTCH3):c.2280C>T (p.Cys760=) rs754147124 0.00005
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=) rs372158498 0.00003
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) rs200883235 0.00002
NM_000435.3(NOTCH3):c.3718+7G>A rs753987937 0.00001
NM_000435.3(NOTCH3):c.3837+11G>A rs752485887 0.00001
NM_000435.3(NOTCH3):c.415G>A (p.Asp139Asn) rs777257132 0.00001
NM_000435.3(NOTCH3):c.5484G>A (p.Gly1828=) rs769445841 0.00001
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237 0.00001
NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=) rs775043966 0.00001
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410

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