ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome due to a NOTCH2 point mutation by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) rs1570655570

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