ClinVar Miner

List of variants in gene NPC1 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000271.5(NPC1):c.3246-46C>T rs117851153 0.00718
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) rs61731969 0.00459
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.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
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.3182T>C (p.Ile1061Thr) rs80358259 0.00025
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.3019C>G (p.Pro1007Ala) rs80358257 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.2201G>T (p.Ser734Ile) rs757475924 0.00014
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.1695C>T (p.Phe565=) rs373094778 0.00012
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 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.501A>G (p.Ser167=) rs202148667 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.181-3A>G rs371126954 0.00010
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln) rs140527006 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.1504G>A (p.Asp502Asn) rs1416446081 0.00006
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 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.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311 0.00006
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp) rs141243713 0.00006
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 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.2911+4C>T rs186588103 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 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.1039G>A (p.Val347Ile) rs376741451 0.00003
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1533G>A (p.Thr511=) rs778890495 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476 0.00003
NM_000271.5(NPC1):c.3155T>C (p.Ile1052Thr) rs1238268739 0.00003
NM_000271.5(NPC1):c.3364T>C (p.Trp1122Arg) rs148571882 0.00003
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 0.00003
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.2830G>A (p.Asp944Asn) rs748837410 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 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.1214C>T (p.Thr405Met) rs764364312 0.00001
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter) rs775629081 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.1870G>A (p.Val624Ile) rs76615690 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 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.2196dup (p.Pro733fs) rs398123284 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.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691 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.3104C>T (p.Ala1035Val) rs28942107 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.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.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3591+4del rs794727371 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.372A>T (p.Thr124=) rs748125983 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.411G>A (p.Thr137=) rs756405444 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.57+7G>A rs886042901 0.00001
NM_000271.5(NPC1):c.58-4G>A rs767683969 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.834G>A (p.Ala278=) rs146105340 0.00001
NM_000271.5(NPC1):c.1065del (p.Phe356fs) rs886043871
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs) rs1567965488
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1224C>T (p.Leu408=) rs759901793
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
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.1553G>A (p.Arg518Gln) rs483352886
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.1628del (p.Pro543fs) rs1555635957
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+10G>T rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insGGC rs1555634676
NM_000271.5(NPC1):c.1947+10_1947+11insT rs1555634677
NM_000271.5(NPC1):c.1947+6dup rs1555634619
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+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+11dup 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+10insT rs1555634683
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.2131-6_2131-4del rs11299077
NM_000271.5(NPC1):c.2199C>T (p.Pro733=) rs1567953838
NM_000271.5(NPC1):c.2246-5G>A rs77289650
NM_000271.5(NPC1):c.2314T>G (p.Phe772Val) rs1567952061
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.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2712G>T (p.Gly904=) rs560122245
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.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3192T>C (p.Asn1064=) rs1266714936
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=) rs1567945743
NM_000271.5(NPC1):c.3496G>A (p.Glu1166Lys) rs1567944248
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3662T>C (p.Phe1221Ser) rs1266315135
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3773C>T (p.Ala1258Val) rs767400384
NM_000271.5(NPC1):c.3783dup (p.Ala1262fs) rs1567940848
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs) rs1555641037
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.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.737_738delinsCA (p.Val246Ala) rs1567969413
NM_000271.5(NPC1):c.800C>G (p.Ala267Gly) rs780178153
NM_000271.5(NPC1):c.90G>A (p.Glu30=) rs1273070261
NM_000271.5(NPC1):c.956-7C>G rs537484682
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580

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