ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
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.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala) rs1194990534
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.955+1G>A
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076

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