ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome due to a NOTCH2 point mutation by Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency

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