ClinVar Miner

List of variants in gene combination NPC1, RMC1 studied for Niemann-Pick disease type C1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP
NM_000271.5(NPC1):c.*494G>T
NM_000271.5(NPC1):c.*500A>G	rs886053662
NM_000271.5(NPC1):c.*718C>T

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