List of variants in gene NPC1 reported as not provided for immune system disorder

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)	rs1805082	0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)	rs1140458	0.45824
NM_000271.5(NPC1):c.1926= (p.Met642=)	rs1788799	0.26043
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	rs1805084	0.10225
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	rs55680026	0.00329
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)	rs80358253	0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)	rs80358258	0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	rs80358252	0.00001
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254

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