List of variants in gene NPC1 reported by Genetic Services Laboratory, University of Chicago

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)	rs1788799	0.73957
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.644A>G (p.His215Arg)	rs1805081	0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)	rs12970899	0.13133
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)	rs139751448	0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	rs398123284	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)	rs1364834942	0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)	rs750323164	0.00001
NM_000271.5(NPC1):c.3246-2A>G	rs886042268
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504

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