List of variants in gene NPC1 reported as likely benign by Illumina Laboratory Services, Illumina

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000271.4(NPC1):c.-238C>G	rs8099071	0.11990
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01665
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)	rs61731962	0.01305
NM_000271.4(NPC1):c.-179C>T	rs145693774	0.01171
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000271.5(NPC1):c.1947+14_1947+15insC	rs201170241	0.00371
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	rs116436235	0.00352
NM_000271.5(NPC1):c.3477+4A>G	rs114073738	0.00292
NM_000271.5(NPC1):c.*68G>A	rs139720390	0.00123
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)	rs143205855	0.00015
NM_000271.5(NPC1):c.501A>G (p.Ser167=)	rs202148667	0.00011
NM_000271.5(NPC1):c.1947+10G>C	rs71534236

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