ClinVar Miner

List of variants reported as pathogenic for Niemann-Pick disease type C by Shanghain Institute for Pediatric Research

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_000271.5(NPC1):c.1030del (p.Ser344fs) rs483352883
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2302dup (p.Val768fs) rs483352881
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter) rs483352884
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.416dup (p.Asn140fs) rs483352880
NM_006432.4(NPC2):c.3G>C (p.Met1Ile) rs483352893

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