ClinVar Miner

List of variants in gene NPC1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP
NM_000271.3(NPC1):c.1140_1141del (p.Trp381Valfs)
NM_000271.4(NPC1):c.1010G>A (p.Arg337Gln) rs373390781
NM_000271.4(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.4(NPC1):c.1039G>A (p.Val347Ile)
NM_000271.4(NPC1):c.1065delC (p.Phe356Serfs) rs886043871
NM_000271.4(NPC1):c.1071G>A (p.Ser357=) rs61731964
NM_000271.4(NPC1):c.1085C>A (p.Thr362Asn)
NM_000271.4(NPC1):c.1115G>A (p.Arg372Gln) rs150053420
NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.4(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908
NM_000271.4(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.4(NPC1):c.1214C>T (p.Thr405Met)
NM_000271.4(NPC1):c.1219C>T (p.Gln407Ter) rs775629081
NM_000271.4(NPC1):c.1221G>C (p.Gln407His) rs765539977
NM_000271.4(NPC1):c.1224C>T (p.Leu408=) rs759901793
NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.4(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.4(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.4(NPC1):c.1348A>G (p.Ile450Val) rs141892620
NM_000271.4(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685
NM_000271.4(NPC1):c.1431G>A (p.Thr477=) rs375307057
NM_000271.4(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.4(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1504G>A (p.Asp502Asn)
NM_000271.4(NPC1):c.1521C>T (p.Ala507=)
NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.4(NPC1):c.1533G>A (p.Thr511=)
NM_000271.4(NPC1):c.1535A>G (p.His512Arg)
NM_000271.4(NPC1):c.1542G>A (p.Leu514=) rs371076898
NM_000271.4(NPC1):c.1549G>A (p.Val517Ile)
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1561G>A (p.Ala521Thr)
NM_000271.4(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.4(NPC1):c.1579A>G (p.Ser527Gly)
NM_000271.4(NPC1):c.1618C>T (p.Pro540Ser) rs886044064
NM_000271.4(NPC1):c.1628delC (p.Pro543Argfs) rs1555635957
NM_000271.4(NPC1):c.1671C>T (p.Asn557=) rs772427096
NM_000271.4(NPC1):c.1695C>T (p.Phe565=)
NM_000271.4(NPC1):c.1764T>C (p.Ile588=)
NM_000271.4(NPC1):c.1766A>G (p.Asn589Ser)
NM_000271.4(NPC1):c.180+8C>T
NM_000271.4(NPC1):c.180G>T (p.Gln60His)
NM_000271.4(NPC1):c.181-3A>G
NM_000271.4(NPC1):c.1819C>A (p.Arg607=) rs377130051
NM_000271.4(NPC1):c.1870G>A (p.Val624Ile)
NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) rs886042270
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1937G>A (p.Arg646His)
NM_000271.4(NPC1):c.1947+10G>A rs71534236
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.1947+10G>T rs71534236
NM_000271.4(NPC1):c.1947+10_1947+11insCGG rs1555634676
NM_000271.4(NPC1):c.1947+10_1947+11insT
NM_000271.4(NPC1):c.1947+13_1947+16dupGGGG rs3837910
NM_000271.4(NPC1):c.1947+14G>T rs3745024
NM_000271.4(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.4(NPC1):c.1947+16dupG rs3837910
NM_000271.4(NPC1):c.1947+5G>C rs770321568
NM_000271.4(NPC1):c.1947+7_1947+8insCGG
NM_000271.4(NPC1):c.1947+7_1947+8insCGGCG rs1555634618
NM_000271.4(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.4(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.4(NPC1):c.1947+7dupC rs1555634619
NM_000271.4(NPC1):c.1947+8G>C rs66620415
NM_000271.4(NPC1):c.1947+9_1947+10insAGGG rs772150994
NM_000271.4(NPC1):c.1947+9_1947+10insC
NM_000271.4(NPC1):c.1947+9_1947+10insT
NM_000271.4(NPC1):c.1989C>G (p.Ile663Met)
NM_000271.4(NPC1):c.2032A>G (p.Ile678Val)
NM_000271.4(NPC1):c.204T>G (p.Phe68Leu)
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2085G>A (p.Leu695=)
NM_000271.4(NPC1):c.209A>G (p.Asn70Ser)
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.4(NPC1):c.2131-6_2131-4delTTT rs11299077
NM_000271.4(NPC1):c.2141G>A (p.Arg714His) rs375047023
NM_000271.4(NPC1):c.2196dupT (p.Pro733Serfs) rs398123284
NM_000271.4(NPC1):c.2199C>T (p.Pro733=)
NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.4(NPC1):c.2246-5G>A rs77289650
NM_000271.4(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.4(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.4(NPC1):c.2275A>G (p.Thr759Ala) rs776873102
NM_000271.4(NPC1):c.2292G>A (p.Ala764=)
NM_000271.4(NPC1):c.2304C>T (p.Val768=) rs183935795
NM_000271.4(NPC1):c.2314T>G (p.Phe772Val)
NM_000271.4(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.4(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.4(NPC1):c.2449T>C (p.Leu817=) rs376980859
NM_000271.4(NPC1):c.2455C>A (p.Arg819Ser) rs762226042
NM_000271.4(NPC1):c.2465A>G (p.Lys822Arg) rs763535443
NM_000271.4(NPC1):c.2472C>G (p.Ser824=)
NM_000271.4(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.4(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.4(NPC1):c.2510T>C (p.Ile837Thr) rs758474760
NM_000271.4(NPC1):c.2514+3A>C
NM_000271.4(NPC1):c.2514+6C>T rs73392120
NM_000271.4(NPC1):c.2514+7G>A
NM_000271.4(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2598G>T (p.Met866Ile) rs1019159514
NM_000271.4(NPC1):c.2604+1G>A rs1555633454
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2655G>A (p.Ala885=)
NM_000271.4(NPC1):c.2677C>T (p.Leu893=) rs756756960
NM_000271.4(NPC1):c.2709G>A (p.Lys903=)
NM_000271.4(NPC1):c.2712G>T (p.Gly904=) rs560122245
NM_000271.4(NPC1):c.2731G>A (p.Gly911Ser) rs34302553
NM_000271.4(NPC1):c.273A>G (p.Leu91=)
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2795+19T>C rs200103695
NM_000271.4(NPC1):c.2801G>T (p.Arg934Leu) rs786204714
NM_000271.4(NPC1):c.2808C>T (p.Gly936=)
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2820G>A (p.Ser940=) rs754664476
NM_000271.4(NPC1):c.2830G>A (p.Asp944Asn)
NM_000271.4(NPC1):c.2851A>C (p.Lys951Gln)
NM_000271.4(NPC1):c.2862G>A (p.Ser954=) rs373517774
NM_000271.4(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.2911+10C>T
NM_000271.4(NPC1):c.2911+4C>T
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2942C>T (p.Pro981Leu)
NM_000271.4(NPC1):c.2973_2974delGGinsAT (p.Gly992Trp) rs1555632971
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.4(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.302T>G (p.Phe101Cys) rs548191894
NM_000271.4(NPC1):c.3041+10G>A rs965937353
NM_000271.4(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3130G>A (p.Val1044Met)
NM_000271.4(NPC1):c.3155T>C (p.Ile1052Thr)
NM_000271.4(NPC1):c.3159C>T (p.Asp1053=)
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3192T>C (p.Asn1064=)
NM_000271.4(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.4(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.4(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.4(NPC1):c.3246-20G>A rs6507717
NM_000271.4(NPC1):c.3246-2A>G rs886042268
NM_000271.4(NPC1):c.3246-46C>T rs117851153
NM_000271.4(NPC1):c.3246-8C>T
NM_000271.4(NPC1):c.3289G>A (p.Asp1097Asn)
NM_000271.4(NPC1):c.3300C>T (p.Phe1100=)
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.3364T>C (p.Trp1122Arg) rs148571882
NM_000271.4(NPC1):c.3393C>T (p.Ile1131=)
NM_000271.4(NPC1):c.3432C>G (p.Leu1144=) rs191526202
NM_000271.4(NPC1):c.3451G>A (p.Ala1151Thr)
NM_000271.4(NPC1):c.3477+4A>G rs114073738
NM_000271.4(NPC1):c.3478-7A>C
NM_000271.4(NPC1):c.3482G>C (p.Cys1161Ser)
NM_000271.4(NPC1):c.3489C>T (p.Ile1163=)
NM_000271.4(NPC1):c.3492C>T (p.Ser1164=) rs371160947
NM_000271.4(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.4(NPC1):c.3496G>A (p.Glu1166Lys)
NM_000271.4(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.4(NPC1):c.3528G>A (p.Thr1176=) rs150602021
NM_000271.4(NPC1):c.3535A>G (p.Met1179Val) rs61731969
NM_000271.4(NPC1):c.3548G>A (p.Arg1183His)
NM_000271.4(NPC1):c.3550G>A (p.Val1184Met)
NM_000271.4(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180
NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.4(NPC1):c.3558C>T (p.Arg1186=) rs141659629
NM_000271.4(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273
NM_000271.4(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3570_3573dupACTT (p.Ala1192Thrfs) rs750323164
NM_000271.4(NPC1):c.3591+4delA rs794727371
NM_000271.4(NPC1):c.3591C>T (p.Ser1197=)
NM_000271.4(NPC1):c.3592-7_3592-5delCTT rs764142835
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.4(NPC1):c.3662T>C (p.Phe1221Ser)
NM_000271.4(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.4(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.4(NPC1):c.372A>T (p.Thr124=) rs748125983
NM_000271.4(NPC1):c.3732C>T (p.Leu1244=)
NM_000271.4(NPC1):c.3734_3735delCT (p.Pro1245Argfs) rs1064794009
NM_000271.4(NPC1):c.3773C>T (p.Ala1258Val) rs767400384
NM_000271.4(NPC1):c.3794A>T (p.Glu1265Val) rs751251790
NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.4(NPC1):c.3811G>C (p.Glu1271Gln)
NM_000271.4(NPC1):c.3812A>C (p.Glu1271Ala)
NM_000271.4(NPC1):c.3816C>T (p.Arg1272=)
NM_000271.4(NPC1):c.3820C>T (p.Arg1274Trp) rs544089597
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.398T>G (p.Val133Gly) rs375039992
NM_000271.4(NPC1):c.411G>A (p.Thr137=)
NM_000271.4(NPC1):c.423_424insGA (p.Lys142Glufs) rs1555641037
NM_000271.4(NPC1):c.444C>G (p.Val148=)
NM_000271.4(NPC1):c.445G>A (p.Gly149Arg) rs143205855
NM_000271.4(NPC1):c.467T>C (p.Met156Thr) rs147615070
NM_000271.4(NPC1):c.471C>T (p.Tyr157=)
NM_000271.4(NPC1):c.481C>T (p.Arg161Trp) rs141243713
NM_000271.4(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.4(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.541G>A (p.Ala181Thr) rs199963560
NM_000271.4(NPC1):c.544G>A (p.Asp182Asn) rs201021988
NM_000271.4(NPC1):c.546C>T (p.Asp182=) rs572499557
NM_000271.4(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.4(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.4(NPC1):c.57+7G>A rs886042901
NM_000271.4(NPC1):c.58-4G>A
NM_000271.4(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.4(NPC1):c.631+7A>G rs886044570
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.4(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.4(NPC1):c.67delC (p.Gln23Serfs) rs886043131
NM_000271.4(NPC1):c.684C>T (p.Asp228=)
NM_000271.4(NPC1):c.688_693delTCTGTG (p.Ser230_Val231del) rs758687942
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.4(NPC1):c.737_738delTCinsCA (p.Val246Ala)
NM_000271.4(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.4(NPC1):c.800C>G (p.Ala267Gly) rs780178153
NM_000271.4(NPC1):c.834G>A (p.Ala278=) rs146105340
NM_000271.4(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.4(NPC1):c.89A>T (p.Glu30Val)
NM_000271.4(NPC1):c.90G>A (p.Glu30=)
NM_000271.4(NPC1):c.916G>A (p.Asp306Asn) rs747243586
NM_000271.4(NPC1):c.956-7C>G rs537484682
NM_000271.4(NPC1):c.973_974dupGA (p.Asp325Glufs) rs886044580
NM_000271.4(NPC1):c.985G>A (p.Ala329Thr)
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669
NM_000271.5(NPC1):c.3783dup (p.Ala1262Cysfs)

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