ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type C1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)	rs1169032037
NM_000271.5(NPC1):c.3609_3610del (p.Leu1204fs)

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