List of variants reported as pathogenic for immune system disorder by Shanghain Institute for Pediatric Research

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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_006432.5(NPC2):c.3G>C (p.Met1Ile)	rs483352893

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