ClinVar Miner

List of variants in gene NPC1 reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 16
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NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
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.3175C>T (p.Arg1059Ter) rs786204455
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.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3591+1G>A rs786200877
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462

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