ClinVar Miner

List of variants in gene NPC1 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP
NM_000271.4(NPC1):c.3234_3237dupATTT rs863224902
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.5(NPC1):c.1034del (p.Phe345fs)
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964
NM_000271.5(NPC1):c.1095G>A (p.Ser365=) rs150597260
NM_000271.5(NPC1):c.1131A>T (p.Pro377=) rs1164106395
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
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.1250_1253del (p.Lys417fs)
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
NM_000271.5(NPC1):c.1356C>T (p.Asn452=) rs758508630
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155
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.1452G>C (p.Val484=) rs1191599177
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.5(NPC1):c.1533G>C (p.Thr511=) rs778890495
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp)
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
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.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1655-10T>C rs771040873
NM_000271.5(NPC1):c.1695C>T (p.Phe565=) rs373094778
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
NM_000271.5(NPC1):c.1757+7dup rs1393257139
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) rs147021046
NM_000271.5(NPC1):c.180+1G>C
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.180+8C>T rs778096289
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1849dup (p.Ser617fs)
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+7C>T rs56394541
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
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+7_1947+9dup rs1555634685
NM_000271.5(NPC1):c.1947+8G>A rs66620415
NM_000271.5(NPC1):c.1947+8G>C rs66620415
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.1974C>T (p.Ile658=) rs760323508
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990
NM_000271.5(NPC1):c.1998C>T (p.Ser666=) rs373250439
NM_000271.5(NPC1):c.2001G>A (p.Ser667=) rs762100560
NM_000271.5(NPC1):c.2001G>T (p.Ser667=) rs762100560
NM_000271.5(NPC1):c.2043C>G (p.Pro681=) rs754244869
NM_000271.5(NPC1):c.2046G>A (p.Leu682=) rs1598954616
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.2096del (p.Val699fs) rs1598954455
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.5(NPC1):c.2130+10C>G rs776389852
NM_000271.5(NPC1):c.2130+7T>G rs1358733869
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284
NM_000271.5(NPC1):c.222T>C (p.Cys74=) rs779329099
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
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.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.2296T>C (p.Leu766=) rs1598948918
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
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+6C>T rs73392120
NM_000271.5(NPC1):c.2514+7G>A rs764548800
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2604+7_2604+9dup rs762002508
NM_000271.5(NPC1):c.2604+8_2604+71del
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2643G>A (p.Gln881=) rs1350455118
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val)
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.2796-9C>T rs1196732533
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.5(NPC1):c.2817C>G (p.Pro939=) rs747681496
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.2911+2del
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2912-6C>T rs768256586
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3006C>T (p.Phe1002=) rs1459424416
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3039A>G (p.Lys1013=) rs773268548
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-9T>C rs1598939834
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.3099C>T (p.Val1033=) rs753304482
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=) rs750054620
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met)
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) rs1567946736
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3245+10G>A rs375928251
NM_000271.5(NPC1):c.3246-8C>T rs145227129
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
NM_000271.5(NPC1):c.3264C>T (p.Tyr1088=) rs768992863
NM_000271.5(NPC1):c.3273C>T (p.Tyr1091=) rs1598937493
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3294T>C (p.Thr1098=) rs780795762
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.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs)
NM_000271.5(NPC1):c.3387C>T (p.Ala1129=) rs746670383
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
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.3451G>A (p.Ala1151Thr) rs765729815
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.3477+2T>C rs772898831
NM_000271.5(NPC1):c.3477+4A>G rs114073738
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=) rs1598935240
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=) rs371160947
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) rs1555631982
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu)
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) rs558264503
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) rs61731969
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987
NM_000271.5(NPC1):c.3558C>G (p.Arg1186=) rs141659629
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.3570_3573dup (p.Ala1192fs) rs750323164
NM_000271.5(NPC1):c.3597del (p.Phe1199fs)
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val)
NM_000271.5(NPC1):c.36G>A (p.Leu12=) rs1599033687
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.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3744C>T (p.Leu1248=) rs1449318024
NM_000271.5(NPC1):c.3750C>T (p.Tyr1250=) rs758814720
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.5(NPC1):c.3828A>G (p.Leu1276=) rs769465763
NM_000271.5(NPC1):c.420T>C (p.Asn140=) rs369039319
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+3A>G
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
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.544G>A (p.Asp182Asn) rs201021988
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534
NM_000271.5(NPC1):c.606T>C (p.Pro202=) rs1598986724
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.631+7A>G rs886044570
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.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.72C>T (p.Ser24=) rs764560779
NM_000271.5(NPC1):c.756G>A (p.Gln252=) rs768008295
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala)
NM_000271.5(NPC1):c.783G>A (p.Thr261=) rs770731602
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter)
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.5(NPC1):c.882-40T>A rs144469784
NM_000271.5(NPC1):c.882-9G>T rs1598978686
NM_000271.5(NPC1):c.915C>T (p.Ile305=) rs1452021800
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
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965

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