ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome due to a NOTCH2 point mutation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_024408.3:c.6460delC
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter)

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