List of variants in gene NPC1 reported as pathogenic for Niemann-Pick disease, type C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)	rs757475924	0.00014
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	rs543206298	0.00010
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)	rs773767253	0.00005
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)	rs377515417	0.00003
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)	rs28942105	0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	rs200444084	0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)	rs773941375	0.00002
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)	rs139751448	0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	rs369368181	0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	rs376213990	0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)	rs370721218	0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	rs143124972	0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	rs756815030	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.3591+1G>A	rs786200877	0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)	rs758902805	0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)	rs372947142	0.00001
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)	rs1474434210
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	rs483352886
NM_000271.5(NPC1):c.1628del (p.Pro543fs)	rs1555635957
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)	rs1057517455
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)	rs377130051
NM_000271.5(NPC1):c.2129del (p.Gln710fs)	rs2058753352
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	rs786204512
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)	rs1261939149
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)	rs759826138
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	rs786204455
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs)	rs2145350930
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)	rs759075595
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)	rs786200879
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)	rs786200878
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)	rs774943545
NM_000271.5(NPC1):c.395del (p.Pro132fs)	rs1057516462
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)	rs749012588
NM_000271.5(NPC1):c.852del (p.Phe284fs)	rs762124334
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)	rs886044580

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