ClinVar Miner

List of variants in gene NPC1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
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.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala) rs746372120 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 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.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) rs730880963 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.2830G>A (p.Asp944Asn) rs748837410 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 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.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) rs120074134 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter) rs775629081 0.00001
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser) rs143797098 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695 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.1990G>A (p.Val664Met) rs376213990 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.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 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.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 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.3160G>A (p.Ala1054Thr) rs80358258 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.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly) rs144725473 0.00001
NM_000271.5(NPC1):c.3477+2T>C rs772898831 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 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.3591+4del rs794727371 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 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
NC_000018.10:g.23543572_23543573insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCACCAGTGTTATTTGATTTATGGAATTTTGAAACCTCTTCGGGGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTTCATCTCTCTT
NC_000018.9:g.(?_21166241)_(21166317_?)del
NM_000271.4(NPC1):c.2134_2135del
NM_000271.4(NPC1):c.3249_3250del
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu) rs1444308532
NM_000271.5(NPC1):c.1029del (p.Ser344fs)
NM_000271.5(NPC1):c.1030del (p.Ser344fs) rs483352883
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter) rs1474434210
NM_000271.5(NPC1):c.1065del (p.Phe356fs) rs886043871
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter) rs1278305591
NM_000271.5(NPC1):c.1102dup (p.Leu368fs)
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
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.1152dup (p.Ser385fs) rs2145456711
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter) rs1555637139
NM_000271.5(NPC1):c.1176dup (p.Glu393fs)
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)
NM_000271.5(NPC1):c.1205_1208del (p.Phe402fs)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs) rs2058949697
NM_000271.5(NPC1):c.1253_1260dup (p.Gln421fs)
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter) rs2058949363
NM_000271.5(NPC1):c.1290del (p.Phe431fs)
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.1361del (p.Thr454fs)
NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer) rs2058928573
NM_000271.5(NPC1):c.1369dup (p.Tyr457fs)
NM_000271.5(NPC1):c.1417dup (p.Ser473fs) rs2145447827
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
NM_000271.5(NPC1):c.1435_1438dup (p.Thr480fs) rs2145447627
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1451del (p.Val484fs)
NM_000271.5(NPC1):c.1459dup (p.Tyr487fs)
NM_000271.5(NPC1):c.1497dup (p.Gly500fs) rs2058926540
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1531_1532del (p.Thr511fs) rs2145446953
NM_000271.5(NPC1):c.1535A>G (p.His512Arg) rs1567963883
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
NM_000271.5(NPC1):c.1618_1619insGTAC (p.Pro540fs)
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)
NM_000271.5(NPC1):c.1654+1G>A rs2145433024
NM_000271.5(NPC1):c.1654+1dup
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
NM_000271.5(NPC1):c.1757+1G>T
NM_000271.5(NPC1):c.1757+2T>G
NM_000271.5(NPC1):c.1757+2_1757+3del
NM_000271.5(NPC1):c.1757_1757+1del
NM_000271.5(NPC1):c.1764dup (p.Asn589Ter)
NM_000271.5(NPC1):c.1770del (p.Phe590fs)
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
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.1844del (p.Arg615fs) rs1257362365
NM_000271.5(NPC1):c.1849dup (p.Ser617fs) rs2058769608
NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe) rs202140203
NM_000271.5(NPC1):c.1903_1906dup (p.Ser636fs) rs2058768417
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu) rs2058756032
NM_000271.5(NPC1):c.2039dup (p.Leu680fs) rs2145400078
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala) rs2058754429
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2096_2097dup (p.Asp700fs)
NM_000271.5(NPC1):c.2096del (p.Val699fs) rs1598954455
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.5(NPC1):c.2129del (p.Gln710fs) rs2058753352
NM_000271.5(NPC1):c.2130+1G>A rs2058753286
NM_000271.5(NPC1):c.2130+1G>C
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
NM_000271.5(NPC1):c.2170del (p.Leu724fs)
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
NM_000271.5(NPC1):c.2175dup (p.Arg726fs)
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs) rs1057518613
NM_000271.5(NPC1):c.2286_2289del (p.Phe763fs)
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val) rs773765255
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter) rs2058711607
NM_000271.5(NPC1):c.2302dup (p.Val768fs) rs483352881
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)
NM_000271.5(NPC1):c.2336del (p.Phe779fs)
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.2374-1G>A rs2145381556
NM_000271.5(NPC1):c.239_258del (p.Leu80fs)
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)
NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs)
NM_000271.5(NPC1):c.2485del (p.Leu829fs)
NM_000271.5(NPC1):c.248_249del (p.Leu83fs) rs2145544570
NM_000271.5(NPC1):c.24dup (p.Gly9fs) rs2145603843
NM_000271.5(NPC1):c.2515-2A>G
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
NM_000271.5(NPC1):c.2531del (p.Gly844fs)
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2536_2537del (p.Leu846fs)
NM_000271.5(NPC1):c.2591_2594del (p.Leu864fs)
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2604+2T>G
NM_000271.5(NPC1):c.2604+5G>A rs2058697907
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr) rs2058690179
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)
NM_000271.5(NPC1):c.2664dup (p.Val889fs) rs2058688995
NM_000271.5(NPC1):c.2665G>A (p.Val889Met) rs120074130
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter) rs2145373524
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2719del (p.Met907fs)
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro) rs28940897
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter) rs483352884
NM_000271.5(NPC1):c.2823del (p.Trp942fs) rs2145370732
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter) rs2145370569
NM_000271.5(NPC1):c.2857_2858del (p.Gln953fs) rs2145370503
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2878dup (p.Asp960fs)
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter) rs370766410
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.2960_2963del (p.Lys987fs) rs2145366821
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.2977_2978dup (p.Asp994fs)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu) rs764789542
NM_000271.5(NPC1):c.3025_3026insTAAC (p.Pro1009fs) rs1352485089
NM_000271.5(NPC1):c.3027del (p.Lys1010fs) rs1598942578
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
NM_000271.5(NPC1):c.3041+1G>T
NM_000271.5(NPC1):c.3042-2del rs797044431
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val) rs761773567
NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly) rs2145357984
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.3081_3082dup (p.Gly1028fs)
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs) rs1274484561
NM_000271.5(NPC1):c.3086dup (p.His1029fs)
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)
NM_000271.5(NPC1):c.3108_3111del (p.Tyr1037fs) rs2145357685
NM_000271.5(NPC1):c.3122dup (p.Tyr1041Ter) rs2145357627
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala) rs876661319
NM_000271.5(NPC1):c.3135dup (p.Gln1046fs)
NM_000271.5(NPC1):c.3152_3153del (p.Phe1051fs) rs2145357371
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs) rs863224902
NM_000271.5(NPC1):c.3245+1G>T
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3254_3255del (p.Tyr1085fs) rs2145351971
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
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.3281del (p.Ile1094fs)
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs) rs2145351616
NM_000271.5(NPC1):c.3299_3300dup (p.Asn1101fs) rs2145351545
NM_000271.5(NPC1):c.3320dup (p.Ala1108fs) rs2145351287
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs) rs2145350930
NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs) rs2058616798
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)
NM_000271.5(NPC1):c.3457_3458dup (p.Leu1154fs) rs1263493813
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del) rs2058614971
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3477+1G>A rs1405889589
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter) rs2145527075
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.350dup (p.Ser118fs) rs2145527060
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) rs1555631982
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3540del (p.Gly1181fs)
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter) rs776701050
NM_000271.5(NPC1):c.3562del (p.Glu1188fs) rs758231839
NM_000271.5(NPC1):c.3591+2T>A rs1555631888
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3591+2T>G
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.3597del (p.Phe1199fs) rs2058574038
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000271.5(NPC1):c.3612dup (p.Thr1205fs) rs2145336359
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs) rs886041356
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3639G>C (p.Leu1213Phe) rs120074131
NM_000271.5(NPC1):c.3645del (p.Phe1215fs)
NM_000271.5(NPC1):c.3658dup (p.Ile1220fs)
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)
NM_000271.5(NPC1):c.3678del (p.Phe1226fs) rs2058572084
NM_000271.5(NPC1):c.3689del (p.Leu1230fs)
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3740dup (p.Leu1247fs)
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.407del (p.Gln136fs)
NM_000271.5(NPC1):c.415del (p.Thr139fs)
NM_000271.5(NPC1):c.416dup (p.Asn140fs) rs483352880
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs) rs1555641037
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
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.464-2A>C rs2145485704
NM_000271.5(NPC1):c.473del (p.Asn158fs)
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile) rs2059038310
NM_000271.5(NPC1):c.526del (p.Leu176fs) rs1131691558
NM_000271.5(NPC1):c.644del (p.His215fs) rs2145481013
NM_000271.5(NPC1):c.652del (p.Glu218fs)
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)
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.692_693del (p.Val231fs)
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.741_742del (p.Cys247fs)
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
NM_000271.5(NPC1):c.750_763dup (p.Pro255fs)
NM_000271.5(NPC1):c.754del (p.Gln252fs)
NM_000271.5(NPC1):c.762del (p.Pro255fs)
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter) rs2059233403
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000271.5(NPC1):c.846_847del (p.Phe284fs)
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.85G>T (p.Gly29Ter) rs2145552346
NM_000271.5(NPC1):c.864del (p.Phe288fs)
NM_000271.5(NPC1):c.881+1G>T rs1555638409
NM_000271.5(NPC1):c.895del (p.Val299fs)
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
NM_000271.5(NPC1):c.94_97dup (p.Ile33fs) rs2145552247
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NPC1, IVS16, G-A, -82

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