ClinVar Miner

List of variants in gene NPC1 reported as likely benign for Niemann-Pick disease type C1

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NM_000271.5(NPC1):c.*68G>A
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.5(NPC1):c.1095G>A (p.Ser365=) rs150597260
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.123T>C (p.Asn41=) rs777848348
NM_000271.5(NPC1):c.1275G>A (p.Ser425=) rs190032589
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1608G>A (p.Thr536=) rs372770463
NM_000271.5(NPC1):c.1655-10T>C rs771040873
NM_000271.5(NPC1):c.1757+7dup rs1393257139
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.1947+16del rs3837910
NM_000271.5(NPC1):c.1947+7C>T rs56394541
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGG rs1555634618
NM_000271.5(NPC1):c.1947+8G>A rs66620415
NM_000271.5(NPC1):c.1947+8G>C rs66620415
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insC rs1555634683
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGCG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGG rs772150994
NM_000271.5(NPC1):c.2001G>A (p.Ser667=) rs762100560
NM_000271.5(NPC1):c.2055T>C (p.Ile685=) rs199856145
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.5(NPC1):c.2130+10C>G rs776389852
NM_000271.5(NPC1):c.222T>C (p.Cys74=) rs779329099
NM_000271.5(NPC1):c.2246-5G>A rs77289650
NM_000271.5(NPC1):c.2246-6C>T rs757950161
NM_000271.5(NPC1):c.2256C>G (p.Ser752=) rs199641393
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)
NM_000271.5(NPC1):c.2428G>A (p.Val810Ile)
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2508A>G (p.Pro836=) rs1468600723
NM_000271.5(NPC1):c.2514+7G>A rs764548800
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358
NM_000271.5(NPC1):c.2643G>A (p.Gln881=) rs1350455118
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486
NM_000271.5(NPC1):c.2781G>A (p.Ala927=) rs766328496
NM_000271.5(NPC1):c.2795+19T>C rs200103695
NM_000271.5(NPC1):c.2796-9C>T rs1196732533
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.5(NPC1):c.3039A>G (p.Lys1013=) rs773268548
NM_000271.5(NPC1):c.3099C>T (p.Val1033=) rs753304482
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=) rs750054620
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.3246-8C>T rs145227129
NM_000271.5(NPC1):c.3264C>T (p.Tyr1088=) rs768992863
NM_000271.5(NPC1):c.3294T>C (p.Thr1098=) rs780795762
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.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3477+14C>T rs56043719
NM_000271.5(NPC1):c.3477+19T>C rs375942184
NM_000271.5(NPC1):c.3477+4A>G rs114073738
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=) rs371160947
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962
NM_000271.5(NPC1):c.3744C>T (p.Leu1248=) rs1449318024
NM_000271.5(NPC1):c.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728
NM_000271.5(NPC1):c.3828A>G (p.Leu1276=) rs769465763
NM_000271.5(NPC1):c.435A>G (p.Gln145=) rs746389947
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855
NM_000271.5(NPC1):c.463+19A>G rs117512587
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.606T>C (p.Pro202=) rs1598986724
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.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.72C>T (p.Ser24=) rs764560779
NM_000271.5(NPC1):c.882-9G>T rs1598978686
NM_000271.5(NPC1):c.956-10G>A rs755660832
NM_000271.5(NPC1):c.956-7C>T rs537484682
NM_000271.5(NPC1):c.963G>A (p.Ala321=) rs763990769

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