ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.5(NPC1):c.*109T>G rs188980155
NM_000271.5(NPC1):c.*129T>G
NM_000271.5(NPC1):c.*161C>T
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.*327C>T
NM_000271.5(NPC1):c.*328A>C
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.*94G>A
NM_000271.5(NPC1):c.-100C>G rs553740667
NM_000271.5(NPC1):c.-110C>T
NM_000271.5(NPC1):c.-116C>G
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.-139G>A
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.-36A>C rs750622739
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile)
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>C
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.1947+8G>C rs66620415
NM_000271.5(NPC1):c.1948-11G>A
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val)
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.5(NPC1):c.2130+10C>G rs776389852
NM_000271.5(NPC1):c.2131-1del rs1567954054
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023
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.2337C>T (p.Phe779=)
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.2413G>C (p.Glu805Gln)
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2514+15G>A
NM_000271.5(NPC1):c.2514+7G>A rs764548800
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924
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.2801G>T (p.Arg934Leu) rs786204714
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.2849T>G (p.Val950Gly) rs1057517978
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.3052G>A (p.Ala1018Thr)
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
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.3548G>A (p.Arg1183His) rs148035987
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu)
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
NM_000271.5(NPC1):c.984C>T (p.Ser328=)

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