ClinVar Miner

List of variants in gene NPC1 reported as likely pathogenic

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Gene type:
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Total variants: 129
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HGVS dbSNP
NC_000018.10:g.23535537dup
NC_000018.10:g.23556257G>A
NM_000271.4(NPC1):c.2131-2_2131delAGA rs1555634236
NM_000271.4(NPC1):c.2911+1delG rs1555633118
NM_000271.4(NPC1):c.3044_3097del rs797044431
NM_000271.4(NPC1):c.3243_3755-94del
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_000271.5(NPC1):c.1018_1019AC[1] (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
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.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1327-1G>A rs1057516813
NM_000271.5(NPC1):c.1327-1G>C rs1057516813
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.1761del (p.Phe587fs) rs1057517197
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
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.1947+5G>C rs770321568
NM_000271.5(NPC1):c.1948-1G>A rs1555634508
NM_000271.5(NPC1):c.1948-2A>T rs1555634513
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990
NM_000271.5(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
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.2201G>T (p.Ser734Ile) rs757475924
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2447_2450GTTT[1] (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
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.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs) rs761910746
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2963_2964AG[1] (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
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>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
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.3451G>A (p.Ala1151Thr)
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.3477+2T>C
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs) rs1555631957
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164
NM_000271.5(NPC1):c.3591+1G>A rs786200877
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3592-1G>C rs1555631653
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs) rs1555631642
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs) rs1555631610
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
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.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.410C>T (p.Thr137Met) rs372947142
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.449_450AG[1] (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.5(NPC1):c.58-2A>T rs1555642347
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer) rs1057516260
NM_000271.5(NPC1):c.631+2T>C rs1555638833
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.810_812CAT[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.956-1G>A rs756853895

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