ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_000271.4(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375

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