ClinVar Miner

List of variants reported for Niemann-Pick disease, type C2 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu) rs773765255
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter) rs2506107289
NM_006432.5(NPC2):c.82+2T>C rs879253740

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