List of variants reported as uncertain significance for Niemann-Pick disease, type C1 by Genome-Nilou Lab

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	rs55680026	0.00329
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu)	rs140149624	0.00014
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)	rs756815669	0.00006
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile)	rs376741451	0.00003
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)	rs1567946736
NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser)	rs2145335710
NM_000271.5(NPC1):c.442G>C (p.Val148Leu)	rs200323346
NM_000271.5(NPC1):c.761C>G (p.Pro254Arg)	rs752145311

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