ClinVar Miner

List of variants in gene NPC1 reported by Shanghain Institute for Pediatric Research

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Total variants: 14
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HGVS dbSNP
NM_000271.4(NPC1):c.1030delT (p.Ser344Leufs) rs483352883
NM_000271.4(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1800delC (p.Ile601Phefs) rs483352879
NM_000271.4(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
NM_000271.4(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.4(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.4(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.4(NPC1):c.2230_2231delGT (p.Val744Serfs) rs483352882
NM_000271.4(NPC1):c.2302_2303insG (p.Val768Glyfs) rs483352881
NM_000271.4(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.4(NPC1):c.2795dupA (p.Tyr932Terfs) rs483352884
NM_000271.4(NPC1):c.2912-3C>G rs483352892
NM_000271.4(NPC1):c.416_417insC (p.Asn140Lysfs) rs483352880

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