ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.*309_*315del rs145236115 0.00648
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) rs147021046 0.00045
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00034
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354 0.00022
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609 0.00021
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573 0.00019
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988 0.00014
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 0.00012
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=) rs201460899 0.00011
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809 0.00011
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_000271.5(NPC1):c.398T>G (p.Val133Gly) rs375039992 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000271.5(NPC1):c.180+8C>T rs778096289 0.00010
NM_000271.5(NPC1):c.962C>T (p.Ala321Val) rs138079168 0.00010
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr) rs572337787 0.00009
NM_000271.5(NPC1):c.273A>G (p.Leu91=) rs370718676 0.00008
NM_000271.5(NPC1):c.2911+10C>T rs370382673 0.00008
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=) rs371160947 0.00008
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00008
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 0.00006
NM_000271.5(NPC1):c.181-3A>G rs371126954 0.00006
NM_000271.5(NPC1):c.2551G>A (p.Ala851Thr) rs139297968 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311 0.00006
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln) rs140527006 0.00006
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp) rs141243713 0.00006
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534 0.00006
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val) rs141892620 0.00005
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala) rs773448915 0.00005
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln) rs373390781 0.00004
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn) rs761903316 0.00004
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000271.5(NPC1):c.1671C>T (p.Asn557=) rs772427096 0.00004
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023 0.00004
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala) rs776873102 0.00004
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000271.5(NPC1):c.2911+4C>T rs186588103 0.00004
NM_000271.5(NPC1):c.2912-5G>A rs369985476 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 0.00004
NM_000271.5(NPC1):c.3155T>C (p.Ile1052Thr) rs1238268739 0.00004
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=) rs911696662 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.546C>T (p.Asp182=) rs572499557 0.00004
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn) rs1416446081 0.00003
NM_000271.5(NPC1):c.1533G>A (p.Thr511=) rs778890495 0.00003
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476 0.00003
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln) rs969498640 0.00003
NM_000271.5(NPC1):c.3364T>C (p.Trp1122Arg) rs148571882 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 0.00003
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1709A>G (p.Tyr570Cys) rs755718928 0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051 0.00002
NM_000271.5(NPC1):c.2032A>G (p.Ile678Val) rs778974063 0.00002
NM_000271.5(NPC1):c.2449T>C (p.Leu817=) rs376980859 0.00002
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile) rs1019159514 0.00002
NM_000271.5(NPC1):c.2677C>T (p.Leu893=) rs756756960 0.00002
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) rs751251790 0.00002
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn) rs747243586 0.00002
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile) rs376741451 0.00001
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met) rs764364312 0.00001
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1618C>T (p.Pro540Ser) rs886044064 0.00001
NM_000271.5(NPC1):c.1764T>C (p.Ile588=) rs1380492295 0.00001
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser) rs201236716 0.00001
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile) rs76615690 0.00001
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val) rs140786703 0.00001
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu) rs778177842 0.00001
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser) rs200291759 0.00001
NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys) rs770762664 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795 0.00001
NM_000271.5(NPC1):c.2465A>G (p.Lys822Arg) rs763535443 0.00001
NM_000271.5(NPC1):c.2472C>G (p.Ser824=) rs1567951608 0.00001
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr) rs758474760 0.00001
NM_000271.5(NPC1):c.2514+3A>C rs1567951514 0.00001
NM_000271.5(NPC1):c.2514+7G>A rs764548800 0.00001
NM_000271.5(NPC1):c.2655G>A (p.Ala885=) rs544601083 0.00001
NM_000271.5(NPC1):c.2709G>A (p.Lys903=) rs759414321 0.00001
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000271.5(NPC1):c.3041+10G>A rs965937353 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=) rs191526202 0.00001
NM_000271.5(NPC1):c.3478-7A>C rs767148121 0.00001
NM_000271.5(NPC1):c.3482G>C (p.Cys1161Ser) rs1318511656 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3591+4del rs794727371 0.00001
NM_000271.5(NPC1):c.3592-9_3592-8del rs1376430791 0.00001
NM_000271.5(NPC1):c.3620T>C (p.Phe1207Ser) rs764991360 0.00001
NM_000271.5(NPC1):c.372A>T (p.Thr124=) rs748125983 0.00001
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604 0.00001
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728 0.00001
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp) rs544089597 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.411G>A (p.Thr137=) rs756405444 0.00001
NM_000271.5(NPC1):c.57+7G>A rs886042901 0.00001
NM_000271.5(NPC1):c.579G>A (p.Met193Ile) rs1412585368 0.00001
NM_000271.5(NPC1):c.58-4G>A rs767683969 0.00001
NM_000271.5(NPC1):c.58G>T (p.Val20Leu) rs1444708311 0.00001
NM_000271.5(NPC1):c.631+7A>G rs886044570 0.00001
NM_000271.5(NPC1):c.684C>T (p.Asp228=) rs558452690 0.00001
NM_000271.5(NPC1):c.763C>T (p.Pro255Ser) rs373815982 0.00001
NM_000271.5(NPC1):c.834G>A (p.Ala278=) rs146105340 0.00001
NM_000271.5(NPC1):c.959A>G (p.Glu320Gly) rs1482199433 0.00001
NM_000271.5(NPC1):c.1194C>G (p.His398Gln) rs2058950895
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.1224C>T (p.Leu408=) rs759901793
NM_000271.5(NPC1):c.129A>G (p.Glu43=)
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) rs764171713
NM_000271.5(NPC1):c.1346C>T (p.Ala449Val)
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1531A>G (p.Thr511Ala) rs1555636594
NM_000271.5(NPC1):c.1535A>G (p.His512Arg) rs1567963883
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile) rs201791992
NM_000271.5(NPC1):c.1561G>A (p.Ala521Thr) rs138184115
NM_000271.5(NPC1):c.1579A>G (p.Ser527Gly) rs1567961471
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insGGC rs1555634676
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.1989C>G (p.Ile663Met) rs550696790
NM_000271.5(NPC1):c.2085G>A (p.Leu695=) rs1567954920
NM_000271.5(NPC1):c.2131-14_2131-4del rs11299077
NM_000271.5(NPC1):c.2199C>T (p.Pro733=) rs1567953838
NM_000271.5(NPC1):c.2206T>C (p.Phe736Leu)
NM_000271.5(NPC1):c.2246-5G>A rs77289650
NM_000271.5(NPC1):c.2288T>C (p.Phe763Ser) rs568942365
NM_000271.5(NPC1):c.2314T>G (p.Phe772Val) rs1567952061
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg) rs1012718245
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser) rs762226042
NM_000271.5(NPC1):c.2495A>T (p.Asp832Val)
NM_000271.5(NPC1):c.2614A>T (p.Met872Leu)
NM_000271.5(NPC1):c.2638A>C (p.Ser880Arg) rs2145374045
NM_000271.5(NPC1):c.2674G>C (p.Val892Leu) rs2145373610
NM_000271.5(NPC1):c.2683G>A (p.Glu895Lys)
NM_000271.5(NPC1):c.2712G>T (p.Gly904=) rs560122245
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile) rs752107020
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu) rs786204714
NM_000271.5(NPC1):c.2808C>T (p.Gly936=) rs1567949544
NM_000271.5(NPC1):c.2851A>C (p.Lys951Gln) rs781258738
NM_000271.5(NPC1):c.2864C>T (p.Ser955Phe)
NM_000271.5(NPC1):c.2875G>C (p.Val959Leu)
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.309C>G (p.Asn103Lys)
NM_000271.5(NPC1):c.3188G>A (p.Ser1063Asn)
NM_000271.5(NPC1):c.3192T>C (p.Asn1064=) rs1266714936
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
NM_000271.5(NPC1):c.3220A>T (p.Ser1074Cys) rs2058635770
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=) rs1567945743
NM_000271.5(NPC1):c.3310G>T (p.Val1104Leu)
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.3496G>A (p.Glu1166Lys) rs1567944248
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3592G>A (p.Val1198Met)
NM_000271.5(NPC1):c.3653C>G (p.Ser1218Cys)
NM_000271.5(NPC1):c.3662T>C (p.Phe1221Ser) rs1266315135
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.3773C>T (p.Ala1258Val) rs767400384
NM_000271.5(NPC1):c.3783dup (p.Ala1262fs) rs1567940848
NM_000271.5(NPC1):c.440A>T (p.Tyr147Phe)
NM_000271.5(NPC1):c.444C>G (p.Val148=) rs899764342
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.494C>T (p.Ala165Val) rs1555638953
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.715A>G (p.Ser239Gly)
NM_000271.5(NPC1):c.737_738delinsCA (p.Val246Ala) rs1567969413
NM_000271.5(NPC1):c.746C>T (p.Pro249Leu)
NM_000271.5(NPC1):c.800C>G (p.Ala267Gly) rs780178153
NM_000271.5(NPC1):c.881+4_881+10del rs2145479309
NM_000271.5(NPC1):c.899C>G (p.Ser300Cys) rs2058966735
NM_000271.5(NPC1):c.90G>A (p.Glu30=) rs1273070261
NM_000271.5(NPC1):c.956-7C>G rs537484682

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