ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease type C by Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000271.4(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.4(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.4(NPC1):c.3425T>C (p.Met1142Thr) rs778878523

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