ClinVar Miner

List of variants in gene NPC1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.882-288T>C rs1788760 0.75970
NM_000271.5(NPC1):c.2514+163T>C rs1788821 0.74853
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.1554-238A>G rs1652343 0.59569
NM_000271.5(NPC1):c.2605-70A>G rs7239575 0.56022
NM_000271.5(NPC1):c.2911+28T>C rs6507720 0.56005
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.3754+34A>G rs2510344 0.48972
NM_000271.5(NPC1):c.3042-158T>C rs12964689 0.48886
NM_000271.5(NPC1):c.1757+60G>A rs2435307 0.46769
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.3478-177A>G rs11659341 0.13319
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.1554-681C>T rs61707929 0.12919
NC_000018.10:g.23586581G>C rs8099071 0.11990
NM_000271.5(NPC1):c.3246-242T>G rs71360526 0.11933
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000271.5(NPC1):c.-22A>C rs2303880 0.08768
NM_000271.5(NPC1):c.1947+123T>G rs3745023 0.07660
NM_000271.5(NPC1):c.1654+58T>C rs9963518 0.03581
NM_000271.5(NPC1):c.2605-182G>T rs73392118 0.02681
NC_000018.10:g.23586828C>T rs8083325 0.02479
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_000271.5(NPC1):c.1554-1021A>T rs73392141 0.02008
NM_000271.5(NPC1):c.2131-306C>T rs2510343 0.01805
NM_000271.5(NPC1):c.181-290T>C rs76327124 0.01790
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.956-61C>T rs58319130 0.01514
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000271.5(NPC1):c.2911+339C>T rs2282558 0.01491
NM_000271.5(NPC1):c.3754+203G>T rs73392108 0.01489
NM_000271.5(NPC1):c.1554-186T>G rs112768834 0.01474
NM_000271.5(NPC1):c.1554-1249G>A rs78181160 0.01412
NM_000271.5(NPC1):c.2911+72C>T rs56003892 0.01368
NM_000271.5(NPC1):c.2245+114_2245+115insC rs552028482 0.01319
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_000271.5(NPC1):c.2605-149G>A rs113027965 0.01297
NM_000271.5(NPC1):c.3754+108T>G rs112570895 0.01295
NM_000271.5(NPC1):c.3591+265C>T rs117709214 0.01281
NM_000271.5(NPC1):c.3246-190T>G rs151243029 0.01258
NM_000271.5(NPC1):c.1654+250C>T rs7236499 0.01257
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000271.4(NPC1):c.-179C>T rs145693774 0.01171
NM_000271.5(NPC1):c.*164T>C rs8086463 0.01169
NM_000271.5(NPC1):c.1326+130_1326+131del rs145971241 0.01125
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000271.5(NPC1):c.181-88A>G rs76233399 0.01024
NM_000271.5(NPC1):c.1654+311C>T rs115723627 0.00958
NM_000271.5(NPC1):c.3592-208G>A rs138816633 0.00909
NM_000271.5(NPC1):c.3246-46C>T rs117851153 0.00718
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_000271.5(NPC1):c.1553+327G>A rs148115026 0.00667
NM_000271.5(NPC1):c.*309_*315del rs145236115 0.00648
NM_000271.5(NPC1):c.632-199G>A rs148583874 0.00636
NM_000271.5(NPC1):c.881+196A>G rs140270424 0.00636
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_000271.5(NPC1):c.2130+56A>G rs145377000 0.00530
NM_000271.5(NPC1):c.881+153A>G rs76772374 0.00514
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.1554-871G>A rs138123644 0.00431
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000271.5(NPC1):c.463+100T>C rs56266324 0.00403
NM_000271.5(NPC1):c.464-253C>T rs55740456 0.00403
NM_000271.5(NPC1):c.3592-148A>G rs146219325 0.00378
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
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.463+83C>T rs144947594 0.00360
NM_000271.5(NPC1):c.1554-877C>G rs149568886 0.00356
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000271.5(NPC1):c.1326+293A>G rs114021368 0.00347
NM_000271.5(NPC1):c.1947+180G>T rs138946913 0.00347
NM_000271.5(NPC1):c.3245+130G>A rs141281676 0.00346
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.58-273C>T rs538915777 0.00328
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_000271.5(NPC1):c.2796-133T>C rs150105230 0.00298
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.58-105C>T rs148442560 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.3592-42G>C rs149111199 0.00228
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.*68G>A rs139720390 0.00123
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.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.1554-1010C>T rs142706876 0.00046
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.181-15T>C rs375367730 0.00022
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.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 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.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 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.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000271.5(NPC1):c.962C>T (p.Ala321Val) rs138079168 0.00010
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.57+17C>T rs1186978498 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.7G>A (p.Ala3Thr) rs752896980 0.00008
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 0.00006
NM_000271.5(NPC1):c.181-3A>G rs371126954 0.00006
NM_000271.5(NPC1):c.2130+26T>A rs201543574 0.00006
NM_000271.5(NPC1):c.2551G>A (p.Ala851Thr) rs139297968 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.3811G>C (p.Glu1271Gln) rs140527006 0.00006
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp) rs141243713 0.00006
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534 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.1608G>A (p.Thr536=) rs372770463 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.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000271.5(NPC1):c.2911+4C>T rs186588103 0.00004
NM_000271.5(NPC1):c.2912-5G>A rs369985476 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 0.00004
NM_000271.5(NPC1):c.3155T>C (p.Ile1052Thr) rs1238268739 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.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn) rs1416446081 0.00003
NM_000271.5(NPC1):c.1533G>A (p.Thr511=) rs778890495 0.00003
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623 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.2959A>C (p.Lys987Gln) rs969498640 0.00003
NM_000271.5(NPC1):c.3364T>C (p.Trp1122Arg) rs148571882 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 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.1709A>G (p.Tyr570Cys) rs755718928 0.00002
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.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.3289G>A (p.Asp1097Asn) rs758829443 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.3794A>T (p.Glu1265Val) rs751251790 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn) rs747243586 0.00002
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile) rs376741451 0.00001
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) rs120074134 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
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.127G>A (p.Glu43Lys) rs138277307 0.00001
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685 0.00001
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu) rs201226297 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.1618C>T (p.Pro540Ser) rs886044064 0.00001
NM_000271.5(NPC1):c.1764T>C (p.Ile588=) rs1380492295 0.00001
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser) rs201236716 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.1976C>T (p.Ala659Val) rs140786703 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.2140C>T (p.Arg714Cys) rs770762664 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.222T>C (p.Cys74=) rs779329099 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.2619G>A (p.Val873=) rs2058689890 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.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 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.2942C>T (p.Pro981Leu) rs1567948691 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 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.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.3160G>A (p.Ala1054Thr) rs80358258 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.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.3592-9_3592-8del rs1376430791 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3620T>C (p.Phe1207Ser) rs764991360 0.00001
NM_000271.5(NPC1):c.372A>T (p.Thr124=) rs748125983 0.00001
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604 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.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.411G>A (p.Thr137=) rs756405444 0.00001
NM_000271.5(NPC1):c.444C>T (p.Val148=) rs899764342 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.579G>A (p.Met193Ile) rs1412585368 0.00001
NM_000271.5(NPC1):c.58-4G>A rs767683969 0.00001
NM_000271.5(NPC1):c.58G>T (p.Val20Leu) rs1444708311 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.763C>T (p.Pro255Ser) rs373815982 0.00001
NM_000271.5(NPC1):c.834G>A (p.Ala278=) rs146105340 0.00001
NM_000271.5(NPC1):c.888G>A (p.Arg296=) rs369775984 0.00001
NM_000271.5(NPC1):c.956-2A>G rs1473909084 0.00001
NM_000271.5(NPC1):c.959A>G (p.Glu320Gly) rs1482199433 0.00001
NC_000018.9:g.21124907_21124908insCCGCC rs55809701
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter) rs1474434210
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.1194C>G (p.His398Gln) rs2058950895
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
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.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.129A>G (p.Glu43=)
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) rs764171713
NM_000271.5(NPC1):c.1326+176_1326+178del rs142916225
NM_000271.5(NPC1):c.1346C>T (p.Ala449Val)
NM_000271.5(NPC1):c.1459dup (p.Tyr487fs)
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1531A>G (p.Thr511Ala) rs1555636594
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.1553+152del rs11340795
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1057G>C rs189881566
NM_000271.5(NPC1):c.1554-880C>G rs1788762
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.1655-233_1655-232del rs34182768
NM_000271.5(NPC1):c.1655-248_1655-245dup rs34182768
NM_000271.5(NPC1):c.1655-248_1655-246dup rs34182768
NM_000271.5(NPC1):c.1655-248_1655-247dup rs34182768
NM_000271.5(NPC1):c.1655-248dup rs34182768
NM_000271.5(NPC1):c.181-268_181-265del rs71825108
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.1883A>C (p.Tyr628Ser) rs2058768795
NM_000271.5(NPC1):c.1911A>C (p.Leu637=)
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+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+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+15_1947+16insGT rs72283949
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+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+12dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+90T>C rs35047242
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.1948-164C>A rs1652372
NM_000271.5(NPC1):c.1948-164C>G rs1652372
NM_000271.5(NPC1):c.1989C>G (p.Ile663Met) rs550696790
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2085G>A (p.Leu695=) rs1567954920
NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys) rs7227375
NM_000271.5(NPC1):c.2130+7T>G rs1358733869
NM_000271.5(NPC1):c.2131-14_2131-4del rs11299077
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
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.2206T>C (p.Phe736Leu)
NM_000271.5(NPC1):c.2245+109dup rs34563465
NM_000271.5(NPC1):c.2245+121_2245+122insC rs71373350
NM_000271.5(NPC1):c.2245+121_2245+122insCTTTTTTTTTTTTTC rs71373350
NM_000271.5(NPC1):c.2246-5G>A rs77289650
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs) rs1057518613
NM_000271.5(NPC1):c.2288T>C (p.Phe763Ser) rs568942365
NM_000271.5(NPC1):c.2314T>G (p.Phe772Val) rs1567952061
NM_000271.5(NPC1):c.2336dup (p.Val780fs)
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg) rs1012718245
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.2495A>T (p.Asp832Val)
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2604+30del rs746440359
NM_000271.5(NPC1):c.2614A>T (p.Met872Leu)
NM_000271.5(NPC1):c.2638A>C (p.Ser880Arg) rs2145374045
NM_000271.5(NPC1):c.2674G>C (p.Val892Leu) rs2145373610
NM_000271.5(NPC1):c.2683G>A (p.Glu895Lys)
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2712G>T (p.Gly904=) rs560122245
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile) rs752107020
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.2864C>T (p.Ser955Phe)
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2875G>C (p.Val959Leu)
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2911+224C>T rs59792558
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
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.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3042-159G>C rs1788822
NM_000271.5(NPC1):c.3042-205dup rs562891401
NM_000271.5(NPC1):c.3065C>A (p.Ala1022Glu) rs2033609417
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs) rs1274484561
NM_000271.5(NPC1):c.309C>G (p.Asn103Lys)
NM_000271.5(NPC1):c.3188G>A (p.Ser1063Asn)
NM_000271.5(NPC1):c.3192T>C (p.Asn1064=) rs1266714936
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
NM_000271.5(NPC1):c.3220A>T (p.Ser1074Cys) rs2058635770
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3246-309_3246-306del rs61583208
NM_000271.5(NPC1):c.3246-312dup rs61583208
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs) rs2145351616
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=) rs1567945743
NM_000271.5(NPC1):c.3310G>T (p.Val1104Leu)
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3478-119C>A rs141606629
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=) rs1598935240
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.3591+1_3591+7delinsTCTT
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3592G>A (p.Val1198Met)
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs) rs886041356
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3653C>G (p.Ser1218Cys)
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.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.372A>G (p.Thr124=) rs748125983
NM_000271.5(NPC1):c.3732C>G (p.Leu1244=) rs1621962
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.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.3755-72G>T rs144276146
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.440A>T (p.Tyr147Phe)
NM_000271.5(NPC1):c.444C>G (p.Val148=) rs899764342
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.463+190G>A rs113021746
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.494C>T (p.Ala165Val) rs1555638953
NM_000271.5(NPC1):c.526del (p.Leu176fs) rs1131691558
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.57+4A>G rs1057519229
NM_000271.5(NPC1):c.58-281_58-278del rs146504010
NM_000271.5(NPC1):c.631+20G>C rs761048830
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.715A>G (p.Ser239Gly)
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.737_738delinsCA (p.Val246Ala) rs1567969413
NM_000271.5(NPC1):c.745C>T (p.Pro249Ser) rs1184804915
NM_000271.5(NPC1):c.746C>T (p.Pro249Leu)
NM_000271.5(NPC1):c.800C>G (p.Ala267Gly) rs780178153
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.818G>A (p.Trp273Ter) rs2145479791
NM_000271.5(NPC1):c.881+261_881+262dup rs112490232
NM_000271.5(NPC1):c.881+37C>G rs142700149
NM_000271.5(NPC1):c.881+4_881+10del rs2145479309
NM_000271.5(NPC1):c.899C>G (p.Ser300Cys) rs2058966735
NM_000271.5(NPC1):c.90G>A (p.Glu30=) rs1273070261
NM_000271.5(NPC1):c.956-7C>G rs537484682
NM_000271.5(NPC1):c.956-7C>T rs537484682
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580

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