ClinVar Miner

List of variants in gene NPC1 studied for Niemann-Pick disease, type C

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Total variants: 35
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HGVS dbSNP
NM_000271.4(NPC1):c.-179C>T rs145693774
NM_000271.4(NPC1):c.-238C>G rs8099071
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.4(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.*309_*315del rs145236115
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
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.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
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.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375

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