ClinVar Miner

List of variants reported as not provided for CADASIL 1 by GenomeConnect - CureCADASIL

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) rs200881673
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166
NM_000435.3(NOTCH3):c.386C>T (p.Ala129Val)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641

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