ClinVar Miner

List of variants in gene NPC1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 206
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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.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
NM_000271.4(NPC1):c.-238C>G 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.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.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_000271.4(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.-32C>T rs114070977 0.00885
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.632-199G>A rs148583874 0.00636
NM_000271.5(NPC1):c.881+196A>G rs140270424 0.00636
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.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.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.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.463+19A>G rs117512587 0.00252
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.612C>T (p.Thr204=) rs151084683 0.00122
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.631+17C>T rs115397659 0.00083
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.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
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.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
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.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val) rs141892620 0.00005
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
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.1547G>A (p.Cys516Tyr) rs751951695 0.00001
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser) rs201236716 0.00001
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val) rs140786703 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 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.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.3570_3573dup (p.Ala1192fs) rs750323164 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.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.58G>T (p.Val20Leu) rs1444708311 0.00001
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs) rs1555637255
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.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.1326+176_1326+178del rs142916225
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.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.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+15_1947+16insGT rs72283949
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+90T>C rs35047242
NM_000271.5(NPC1):c.1948-164C>A rs1652372
NM_000271.5(NPC1):c.1948-164C>G rs1652372
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys) rs7227375
NM_000271.5(NPC1):c.2131-14_2131-4del rs11299077
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
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.2286_2287del (p.Phe763fs) rs1057518613
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg) rs1012718245
NM_000271.5(NPC1):c.2495A>T (p.Asp832Val)
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.2604+30del rs746440359
NM_000271.5(NPC1):c.2683G>A (p.Glu895Lys)
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2911+224C>T rs59792558
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
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.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.3188G>A (p.Ser1063Asn)
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
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.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3478-119C>A rs141606629
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs) rs886041356
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.463+190G>A rs113021746
NM_000271.5(NPC1):c.494C>T (p.Ala165Val) rs1555638953
NM_000271.5(NPC1):c.526del (p.Leu176fs) rs1131691558
NM_000271.5(NPC1):c.58-281_58-278del rs146504010
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
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.966C>T (p.Ser322=) rs61731965
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580

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