ClinVar Miner

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

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Total variants: 12
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NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.350_351AG[1] (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545

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