ClinVar Miner

List of variants in gene NPC1 reported as likely pathogenic for Niemann-Pick disease, type C

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Total variants: 5
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HGVS dbSNP
NC_000018.10:g.23535537dup
NC_000018.10:g.23556257G>A
NM_000271.4(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805

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