ClinVar Miner

List of variants reported as benign for CADASIL by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000435.3(NOTCH3):c.*338A>C rs7247906
NM_000435.3(NOTCH3):c.*668G>T rs1044055
NM_000435.3(NOTCH3):c.*808G>A rs1044116
NM_000435.3(NOTCH3):c.*837G>A rs12082
NM_000435.3(NOTCH3):c.*890C>T rs1044123
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) rs61731975

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