ClinVar Miner

List of variants in gene NPC1 reported by Counsyl

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Gene type:
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Total variants: 160
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HGVS dbSNP
NM_000271.4(NPC1):c.1033_1034delTT (p.Phe345Leufs) rs1057516950
NM_000271.4(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.4(NPC1):c.1133_1161del29 (p.Val378Glyfs) rs1555637164
NM_000271.4(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.4(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.4(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.4(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1275G>A (p.Ser425=) rs190032589
NM_000271.4(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.4(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.4(NPC1):c.1327-1G>A rs1057516813
NM_000271.4(NPC1):c.1327-1G>C rs1057516813
NM_000271.4(NPC1):c.1327-2dup rs1555636712
NM_000271.4(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.4(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.4(NPC1):c.144_145insT (p.Lys49Terfs) rs1555642296
NM_000271.4(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.4(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1554-1009G>A rs1055204017
NM_000271.4(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.4(NPC1):c.1628delC (p.Pro543Argfs) rs1555635957
NM_000271.4(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.4(NPC1):c.1711delT (p.Tyr571Ilefs) rs1057517455
NM_000271.4(NPC1):c.1761delT (p.Phe587Leufs) rs1057517197
NM_000271.4(NPC1):c.1800delC (p.Ile601Phefs) rs483352879
NM_000271.4(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.4(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203
NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) rs886042270
NM_000271.4(NPC1):c.1947+1G>A rs1555634690
NM_000271.4(NPC1):c.1947+2T>A rs764472245
NM_000271.4(NPC1):c.1947+2T>G rs764472245
NM_000271.4(NPC1):c.1947+5G>C rs770321568
NM_000271.4(NPC1):c.1948-1G>A rs1555634508
NM_000271.4(NPC1):c.1948-2A>T rs1555634513
NM_000271.4(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.4(NPC1):c.1990G>A (p.Val664Met) rs376213990
NM_000271.4(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.4(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.4(NPC1):c.201_203delCTT (p.Phe68del) rs1555641909
NM_000271.4(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.4(NPC1):c.2131-2_2131delAGA rs1555634236
NM_000271.4(NPC1):c.2196dupT (p.Pro733Serfs) rs398123284
NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.4(NPC1):c.2213C>A rs777286835
NM_000271.4(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.4(NPC1):c.2230_2231delGT (p.Val744Serfs) rs483352882
NM_000271.4(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.4(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.4(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.4(NPC1):c.2451_2454delGTTT (p.Leu817Phefs) rs1555633637
NM_000271.4(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.4(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.4(NPC1):c.2683dup (p.Glu895Glyfs) rs1555633326
NM_000271.4(NPC1):c.2712delG (p.Gln905Argfs) rs1555633309
NM_000271.4(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.4(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.4(NPC1):c.2764C>T (p.Gln922Ter) rs786204641
NM_000271.4(NPC1):c.2775delC (p.Asn925Lysfs) rs1057516603
NM_000271.4(NPC1):c.2780C>T (p.Ala927Val) rs753768576
NM_000271.4(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.4(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.4(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.4(NPC1):c.2903A>G (p.Asn968Ser) rs773767253
NM_000271.4(NPC1):c.2907_2908dup (p.Ser970Phefs) rs761910746
NM_000271.4(NPC1):c.2911+1delG rs1555633118
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2965_2966delAG (p.Arg989Alafs) rs1555632977
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.2978dup (p.Asp994Argfs) rs775915490
NM_000271.4(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.4(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.4(NPC1):c.3042-1G>A rs771806960
NM_000271.4(NPC1):c.3044_3097del rs797044431
NM_000271.4(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.4(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353
NM_000271.4(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.4(NPC1):c.3309dupT (p.Val1104Cysfs) rs1057517194
NM_000271.4(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.4(NPC1):c.3325delA (p.Ile1109Tyrfs) rs1057517149
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.33_35delCCT (p.Leu15del) rs1555645598
NM_000271.4(NPC1):c.3417_3423del7 (p.Phe1139Leufs) rs1057516647
NM_000271.4(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.4(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.4(NPC1):c.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.4(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.4(NPC1):c.3477+14C>T rs56043719
NM_000271.4(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.4(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.4(NPC1):c.352_353delAG (p.Gln119Valfs) rs759075595
NM_000271.4(NPC1):c.3535_3538delATGAinsTTT (p.Met1179Phefs) rs1555631957
NM_000271.4(NPC1):c.3555_3563dup (p.Glu1188_Glu1189insArgAlaGlu) rs1555631911
NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.4(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.4(NPC1):c.3562delG (p.Glu1188Lysfs) rs758231839
NM_000271.4(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773
NM_000271.4(NPC1):c.3591+1G>A rs786200877
NM_000271.4(NPC1):c.3591+2T>C rs1555631888
NM_000271.4(NPC1):c.3592-1G>C rs1555631653
NM_000271.4(NPC1):c.3592-7_3592-3del5 rs760935117
NM_000271.4(NPC1):c.3612_3613delTAinsG (p.Thr1205Glnfs) rs1555631642
NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.4(NPC1):c.3634G>T (p.Val1212Leu) rs753419933
NM_000271.4(NPC1):c.3666_3672del7 (p.Gln1222Hisfs) rs1555631610
NM_000271.4(NPC1):c.3742_3745delCTCA (p.Leu1248Valfs) rs774943545
NM_000271.4(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261
NM_000271.4(NPC1):c.3754+1G>A rs1555631571
NM_000271.4(NPC1):c.3754+1G>C rs1555631571
NM_000271.4(NPC1):c.3754+1G>T rs1555631571
NM_000271.4(NPC1):c.3754+3A>C rs1208252513
NM_000271.4(NPC1):c.3769_3772delAAAG (p.Lys1257Profs) rs1555631176
NM_000271.4(NPC1):c.3772delG (p.Ala1258Profs) rs1555631174
NM_000271.4(NPC1):c.3778delA (p.Ser1260Valfs) rs1555631169
NM_000271.4(NPC1):c.3781_3783delTGT (p.Cys1261del) rs1482228628
NM_000271.4(NPC1):c.395delC (p.Pro132Leufs) rs1057516462
NM_000271.4(NPC1):c.397delG (p.Val133Leufs) rs1057517186
NM_000271.4(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.4(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.4(NPC1):c.414_435dup (p.Tyr146Asnfs) rs1555641027
NM_000271.4(NPC1):c.425_428delAAGA (p.Lys142Serfs) rs770580241
NM_000271.4(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.4(NPC1):c.451_452delAG (p.Ser151Phefs) rs749012588
NM_000271.4(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.4(NPC1):c.57+4A>G rs1057519229
NM_000271.4(NPC1):c.58-2A>T rs1555642347
NM_000271.4(NPC1):c.629delC (p.Ser210Terfs) rs1057516260
NM_000271.4(NPC1):c.631+2T>C rs1555638833
NM_000271.4(NPC1):c.688_693delTCTGTG (p.Ser230_Val231del) rs758687942
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.4(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.4(NPC1):c.813_815delCAT (p.Ile271del) rs1243863645
NM_000271.4(NPC1):c.839delT (p.Leu280Cysfs) rs1057518711
NM_000271.4(NPC1):c.852delT (p.Phe284Leufs) rs762124334
NM_000271.4(NPC1):c.852dup (p.Gly285Trpfs) rs762124334
NM_000271.4(NPC1):c.901_912dup (p.Pro304_Ile305insGluTyrThrPro) rs1555637509
NM_000271.4(NPC1):c.956-1G>A rs756853895

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