ClinVar Miner

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

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.4(NPC1):c.3755-6_3755-5delTC rs760529810
NM_000271.5(NPC1):c.*109T>G rs188980155
NM_000271.5(NPC1):c.*191C>A rs534888589
NM_000271.5(NPC1):c.*202C>T rs535059744
NM_000271.5(NPC1):c.*309_*315del rs145236115
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.-100C>G rs553740667
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.-154C>T rs746297876
NM_000271.5(NPC1):c.-29C>G rs762126552
NM_000271.5(NPC1):c.-31G>A rs886053668
NM_000271.5(NPC1):c.-32C>T rs114070977
NM_000271.5(NPC1):c.-36A>C rs750622739
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>T rs886053666
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+6C>G rs745432812
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
NM_000271.5(NPC1):c.2373+14A>G rs771523995
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.2734A>G (p.Met912Val) rs746398811
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821

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