ClinVar Miner

List of variants in gene NPC1, RMC1 studied for Niemann-Pick disease type C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_000271.5(NPC1):c.*485dup rs757215027
NM_000271.5(NPC1):c.*500A>G rs886053662

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