ClinVar Miner

List of variants in gene NPC1 reported by Division of Human Genetics, Children's Hospital of Philadelphia

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	rs786204455

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