ClinVar Miner

List of variants studied for CADASIL 1 by Athena Diagnostics Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451

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