ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 306
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HGVS dbSNP
GRCh37/hg19 18q11.2(chr18:21116657-21146846)x3
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.5(NPC1):c.*109T>G rs188980155
NM_000271.5(NPC1):c.*129T>G
NM_000271.5(NPC1):c.*161C>T
NM_000271.5(NPC1):c.*191C>A rs534888589
NM_000271.5(NPC1):c.*202C>T rs535059744
NM_000271.5(NPC1):c.*309_*315del rs145236115
NM_000271.5(NPC1):c.*327C>T
NM_000271.5(NPC1):c.*328A>C
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.*94G>A
NM_000271.5(NPC1):c.-100C>G rs553740667
NM_000271.5(NPC1):c.-110C>T
NM_000271.5(NPC1):c.-116C>G
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.-139G>A
NM_000271.5(NPC1):c.-154C>T rs746297876
NM_000271.5(NPC1):c.-29C>G rs762126552
NM_000271.5(NPC1):c.-31G>A rs886053668
NM_000271.5(NPC1):c.-36A>C rs750622739
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln) rs373390781
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile) rs376741451
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn) rs761903316
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.5(NPC1):c.1194C>G (p.His398Gln)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met) rs764364312
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977
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.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val) rs933640981
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val) rs141892620
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile)
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
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.1479C>T (p.Ser493=) rs148078801
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn) rs1416446081
NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1531A>G (p.Thr511Ala) rs1555636594
NM_000271.5(NPC1):c.1533G>A (p.Thr511=) rs778890495
NM_000271.5(NPC1):c.1535A>G (p.His512Arg) rs1567963883
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp)
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.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1579A>G (p.Ser527Gly) rs1567961471
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) rs747310316
NM_000271.5(NPC1):c.1618C>T (p.Pro540Ser) rs886044064
NM_000271.5(NPC1):c.1671C>T (p.Asn557=) rs772427096
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
NM_000271.5(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
NM_000271.5(NPC1):c.1764T>C (p.Ile588=) rs1380492295
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) rs147021046
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.180+8C>T rs778096289
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943
NM_000271.5(NPC1):c.181-3A>G rs371126954
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile) rs76615690
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560
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+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>C
NM_000271.5(NPC1):c.1947+12G>T rs886053666
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.1947+6C>G rs745432812
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670
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+8G>C rs66620415
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.1948-11G>A
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.5(NPC1):c.1989C>G (p.Ile663Met) rs550696790
NM_000271.5(NPC1):c.198_200CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.5(NPC1):c.2032A>G (p.Ile678Val) rs778974063
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu) rs778177842
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val)
NM_000271.5(NPC1):c.2085G>A (p.Leu695=) rs1567954920
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser) rs200291759
NM_000271.5(NPC1):c.2130+10C>G rs776389852
NM_000271.5(NPC1):c.2131-14_2131-4del rs11299077
NM_000271.5(NPC1):c.2131-1del rs1567954054
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023
NM_000271.5(NPC1):c.2199C>T (p.Pro733=) rs1567953838
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.5(NPC1):c.2246-5G>A rs77289650
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala) rs776873102
NM_000271.5(NPC1):c.2288T>C (p.Phe763Ser) rs568942365
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795
NM_000271.5(NPC1):c.2314T>G (p.Phe772Val) rs1567952061
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2373+14A>G rs771523995
NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln)
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2449T>C (p.Leu817=) rs376980859
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser) rs762226042
NM_000271.5(NPC1):c.2465A>G (p.Lys822Arg) rs763535443
NM_000271.5(NPC1):c.2472C>G (p.Ser824=) rs1567951608
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr) rs758474760
NM_000271.5(NPC1):c.2514+15G>A
NM_000271.5(NPC1):c.2514+3A>C rs1567951514
NM_000271.5(NPC1):c.2514+7G>A rs764548800
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile) rs1019159514
NM_000271.5(NPC1):c.2604+8_2604+71del
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
NM_000271.5(NPC1):c.2655G>A (p.Ala885=) rs544601083
NM_000271.5(NPC1):c.2677C>T (p.Leu893=) rs756756960
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924
NM_000271.5(NPC1):c.2709G>A (p.Lys903=) rs759414321
NM_000271.5(NPC1):c.2712G>T (p.Gly904=) rs560122245
NM_000271.5(NPC1):c.2734A>G (p.Met912Val) rs746398811
NM_000271.5(NPC1):c.273A>G (p.Leu91=) rs370718676
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val)
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225
NM_000271.5(NPC1):c.27_29CCT[2] (p.Leu15del) rs1555645598
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.2820G>A (p.Ser940=) rs754664476
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.2851A>C (p.Lys951Gln) rs781258738
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253
NM_000271.5(NPC1):c.2911+10C>T rs370382673
NM_000271.5(NPC1):c.2911+4C>T rs186588103
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
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.302T>G (p.Phe101Cys) rs548191894
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.5(NPC1):c.3041+10G>A rs965937353
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr)
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3155T>C (p.Ile1052Thr) rs1238268739
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=) rs201460899
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met)
NM_000271.5(NPC1):c.3192T>C (p.Asn1064=) rs1266714936
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.3230G>A (p.Arg1077Gln) rs534280005
NM_000271.5(NPC1):c.3246-8C>T rs145227129
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile) rs746285672
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=) rs1567945743
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.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.3364T>C (p.Trp1122Arg) rs148571882
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=) rs191526202
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.3478-7A>C rs767148121
NM_000271.5(NPC1):c.3482G>C (p.Cys1161Ser) rs1318511656
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=) rs911696662
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.3496G>A (p.Glu1166Lys) rs1567944248
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
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.3548G>A (p.Arg1183His) rs148035987
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup) rs1555631911
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3591+4del rs794727371
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.3662T>C (p.Phe1221Ser) rs1266315135
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val)
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.5(NPC1):c.372A>T (p.Thr124=) rs748125983
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs) rs1555631176
NM_000271.5(NPC1):c.3772del (p.Ala1258fs) rs1555631174
NM_000271.5(NPC1):c.3773C>T (p.Ala1258Val) rs767400384
NM_000271.5(NPC1):c.3778del (p.Ser1260fs) rs1555631169
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) rs1482228628
NM_000271.5(NPC1):c.3783dup (p.Ala1262fs) rs1567940848
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) rs751251790
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln) rs140527006
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala) rs773448915
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp) rs544089597
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.5(NPC1):c.398T>G (p.Val133Gly) rs375039992
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.5(NPC1):c.411G>A (p.Thr137=) rs756405444
NM_000271.5(NPC1):c.444C>G (p.Val148=) rs899764342
NM_000271.5(NPC1):c.463+3A>G
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp) rs141243713
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988
NM_000271.5(NPC1):c.546C>T (p.Asp182=) rs572499557
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.57+7G>A rs886042901
NM_000271.5(NPC1):c.579G>A (p.Met193Ile) rs1412585368
NM_000271.5(NPC1):c.58-4G>A rs767683969
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu)
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.684C>T (p.Asp228=) rs558452690
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.737_738delinsCA (p.Val246Ala) rs1567969413
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala)
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.5(NPC1):c.800C>G (p.Ala267Gly) rs780178153
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.834G>A (p.Ala278=) rs146105340
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup) rs1555637509
NM_000271.5(NPC1):c.90G>A (p.Glu30=) rs1273070261
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn) rs747243586
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821
NM_000271.5(NPC1):c.956-7C>G rs537484682
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr) rs572337787

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