ClinVar Miner

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

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Total variants: 2
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NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
NM_000271.5(NPC1):c.3639G>C (p.Leu1213Phe) rs120074131

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