ClinVar Miner

List of variants in gene NPC1 reported as likely pathogenic for Niemann-Pick disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000271.5(NPC1):c.1166G>A (p.Arg389His) rs373751051 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 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.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala) rs1444308532 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1948-1G>A rs1555634508 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 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.3056A>G (p.Tyr1019Cys) rs781261962 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.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194 0.00001
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly) rs144725473 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val) rs780175800 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.631+2T>C rs1555638833 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_000271.5(NPC1):c.956-1G>A rs756853895 0.00001
NM_000271.5(NPC1):c.956-2A>G rs1473909084 0.00001
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
NC_000018.9:g.(?_21148777)_(21153548_?)dup
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter) rs1555637232
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter) rs2058953311
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs) rs2145457097
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del) rs1599011473
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu) rs373751051
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
NM_000271.5(NPC1):c.1189C>T (p.Gln397Ter)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
NM_000271.5(NPC1):c.1293del (p.Phe431fs) rs2145455429
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1327-1G>A rs1057516813
NM_000271.5(NPC1):c.1327-1G>C rs1057516813
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter) rs2058929021
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro) rs2145447843
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr) rs2145447716
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu) rs2145446753
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1588C>T (p.His530Tyr)
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg) rs2145433298
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
NM_000271.5(NPC1):c.1619C>G (p.Pro540Arg)
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser) rs2145433190
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1747T>G (p.Trp583Gly)
NM_000271.5(NPC1):c.1757+1G>A
NM_000271.5(NPC1):c.1758-3_1761del
NM_000271.5(NPC1):c.1761del (p.Phe587fs) rs1057517197
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
NM_000271.5(NPC1):c.180+1G>C rs2059231880
NM_000271.5(NPC1):c.180+1G>T
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser) rs745777805
NM_000271.5(NPC1):c.1843C>G (p.Arg615Gly)
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1844G>A (p.Arg615His) rs773351341
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr) rs2145544950
NM_000271.5(NPC1):c.188G>C (p.Cys63Ser)
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1947+1G>A rs1555634690
NM_000271.5(NPC1):c.1947+2T>A rs764472245
NM_000271.5(NPC1):c.1947+2T>G rs764472245
NM_000271.5(NPC1):c.1948-2A>T rs1555634513
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu) rs376213990
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
NM_000271.5(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2072dup (p.Phe692fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter) rs2058754064
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2131-2_2131del rs1555634236
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly) rs2145394815
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2246-1G>A
NM_000271.5(NPC1):c.2246-2A>G rs2058712401
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
NM_000271.5(NPC1):c.2514+1G>A
NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu) rs2145378239
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter) rs2058698654
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter) rs2058698544
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2620G>T (p.Asp874Tyr)
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2673dup (p.Val892fs)
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
NM_000271.5(NPC1):c.269C>G (p.Pro90Arg)
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter) rs2058687419
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter) rs786204641
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2795+56C>T rs2058685029
NM_000271.5(NPC1):c.2796-2A>T
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter) rs2058679233
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs) rs761910746
NM_000271.5(NPC1):c.2911+1del rs1555633118
NM_000271.5(NPC1):c.2911+2del rs2058678962
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser) rs28942108
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
NM_000271.5(NPC1):c.3041+2del rs2058665849
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-2_3042-1del
NM_000271.5(NPC1):c.3042-2del rs797044431
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter) rs1446718670
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
NM_000271.5(NPC1):c.3232del (p.Val1078fs)
NM_000271.5(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter) rs1598937493
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter) rs2059164764
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
NM_000271.5(NPC1):c.3371dup (p.Val1125fs)
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.337_340dup (p.Ser114delinsMetTer)
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter) rs2059164609
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs) rs1057516647
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg) rs2145350224
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
NM_000271.5(NPC1):c.3478-1G>C
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala) rs1194990534
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg) rs2058596611
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs) rs1555631957
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe) rs1234099104
NM_000271.5(NPC1):c.3591+121C>T
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.3592-1G>C rs1555631653
NM_000271.5(NPC1):c.3609_3610del (p.Leu1204fs)
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs) rs1555631642
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs) rs1555631610
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3754+1G>A rs1555631571
NM_000271.5(NPC1):c.3754+1G>C rs1555631571
NM_000271.5(NPC1):c.3754+1G>T rs1555631571
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.378del (p.Glu127fs)
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.397del (p.Val133fs) rs1057517186
NM_000271.5(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs) rs1555641027
NM_000271.5(NPC1):c.425_428del (p.Lys142fs) rs770580241
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.463+1G>A
NM_000271.5(NPC1):c.463+2T>G rs2145526252
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.58-2A>T rs1555642347
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter) rs754653682
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer) rs1057516260
NM_000271.5(NPC1):c.631+1G>T
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter) rs2059021939
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
NM_000271.5(NPC1):c.747del (p.Lys250fs)
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter) rs2059018297
NM_000271.5(NPC1):c.881+1G>A
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter) rs2059233326
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter) rs150154006
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
NM_000271.5(NPC1):c.943del (p.Ala315fs)
NM_000271.5(NPC1):c.955+1G>A
NM_000271.5(NPC1):c.955G>T (p.Gly319Ter)
NM_000271.5(NPC1):c.956-1G>T
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_000271.5(NPC1):c.[2727C>T;2793C>T]

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