List of variants reported as pathogenic for Niemann-Pick disease, type C1 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)	rs120074132	0.00002
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)	rs564631426	0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)	rs781261962	0.00001
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)	rs377130051
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu)	rs2058756032
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)	rs1064794009

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