ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease type C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP
NC_000014.9:g.(?_74480254)_(74486456_?)del
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.5(NPC1):c.*109T>G rs188980155
NM_000271.5(NPC1):c.*129T>G
NM_000271.5(NPC1):c.*161C>T
NM_000271.5(NPC1):c.*191C>A rs534888589
NM_000271.5(NPC1):c.*202C>T rs535059744
NM_000271.5(NPC1):c.*309_*315del rs145236115
NM_000271.5(NPC1):c.*327C>T
NM_000271.5(NPC1):c.*328A>C
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.*485dup rs757215027
NM_000271.5(NPC1):c.*494G>T
NM_000271.5(NPC1):c.*500A>G rs886053662
NM_000271.5(NPC1):c.*718C>T
NM_000271.5(NPC1):c.*94G>A
NM_000271.5(NPC1):c.-100C>G rs553740667
NM_000271.5(NPC1):c.-110C>T
NM_000271.5(NPC1):c.-116C>G
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.-139G>A
NM_000271.5(NPC1):c.-154C>T rs746297876
NM_000271.5(NPC1):c.-29C>G rs762126552
NM_000271.5(NPC1):c.-31G>A rs886053668
NM_000271.5(NPC1):c.-36A>C rs750622739
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile)
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp)
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) rs747310316
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
NM_000271.5(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) rs147021046
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943
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.1901A>G (p.Tyr634Cys) rs202140203
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>C
NM_000271.5(NPC1):c.1947+12G>T rs886053666
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.1947+6C>G rs745432812
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670
NM_000271.5(NPC1):c.1947+8G>C rs66620415
NM_000271.5(NPC1):c.1948-11G>A
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.5(NPC1):c.198_200CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val)
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.5(NPC1):c.2130+10C>G rs776389852
NM_000271.5(NPC1):c.2131-1del rs1567954054
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp)
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2373+14A>G rs771523995
NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln)
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2514+15G>A
NM_000271.5(NPC1):c.2514+7G>A rs764548800
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.5(NPC1):c.2604+8_2604+71del
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924
NM_000271.5(NPC1):c.2734A>G (p.Met912Val) rs746398811
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val)
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225
NM_000271.5(NPC1):c.27_29CCT[2] (p.Leu15del) rs1555645598
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu) rs786204714
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr)
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met)
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) rs1567946736
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
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.3293C>T (p.Thr1098Ile) rs746285672
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del)
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu)
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) rs558264503
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup) rs1555631911
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
NM_000271.5(NPC1):c.3679A>G (p.Arg1227Gly)
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val)
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs) rs1555631176
NM_000271.5(NPC1):c.3772del (p.Ala1258fs) rs1555631174
NM_000271.5(NPC1):c.3778del (p.Ser1260fs) rs1555631169
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) rs1482228628
NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu)
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.5(NPC1):c.463+3A>G
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp)
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu)
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala)
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup) rs1555637509
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
NM_006432.4(NPC2):c.*237G>A rs185533644
NM_006432.4(NPC2):c.*295C>G rs113587712
NM_006432.4(NPC2):c.-68G>T rs578161135
NM_006432.4(NPC2):c.-89G>A rs574247323
NM_006432.4(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.212A>G (p.Lys71Arg) rs142075589
NM_006432.4(NPC2):c.271G>A (p.Asp91Asn) rs148607507
NM_006432.4(NPC2):c.292A>C (p.Asn98His) rs142858704
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.4(NPC2):c.333T>G (p.Asn111Lys) rs757377148
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006432.4(NPC2):c.417_419CTG[1] (p.Cys140del) rs781255433
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006432.4(NPC2):c.442-1G>A rs1555345562
NM_006432.5(NPC2):c.*115C>T
NM_006432.5(NPC2):c.*86G>A
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)

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