ClinVar Miner

List of variants in gene NPC1 studied for Niemann-Pick disease, type C1, juvenile form

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)	rs759826138
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys)	rs28942106
NM_000271.5(NPC1):c.3639G>C (p.Leu1213Phe)	rs120074131
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)	rs749012588

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