List of variants in gene NPC1 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)	rs28942105	0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	rs200444084	0.00002
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)	rs370721218	0.00001
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	rs1338658857	0.00001

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