List of variants in gene NPC1 reported as likely pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659	0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)	rs564631426	0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	rs80358252	0.00001
NM_000271.5(NPC1):c.3754+1del	rs1835896772

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