ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease type C by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773

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