ClinVar Miner

List of variants in gene NPC2 studied for Niemann-Pick disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_006432.5(NPC2):c.190+14G>A rs189666920 0.00476
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_006432.5(NPC2):c.450T>C (p.His150=) rs374489111 0.00027
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro) rs147602717 0.00008
NM_006432.5(NPC2):c.-1G>C rs756433737 0.00007
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) rs369392502 0.00007
NM_006432.5(NPC2):c.270T>C (p.Pro90=) rs758503440 0.00006
NM_006432.5(NPC2):c.330G>C (p.Leu110=) rs762424530 0.00006
NM_006432.5(NPC2):c.264T>C (p.Pro88=) rs1011669605 0.00005
NM_006432.5(NPC2):c.30C>T (p.Leu10=) rs142190691 0.00005
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_006432.5(NPC2):c.168C>T (p.Ser56=) rs761208847 0.00004
NM_006432.5(NPC2):c.190+17C>G rs572299295 0.00004
NM_006432.5(NPC2):c.190+4C>T rs776980208 0.00004
NM_006432.5(NPC2):c.442-8A>C rs758764082 0.00004
NM_006432.5(NPC2):c.57C>T (p.Ala19=) rs752818745 0.00004
NM_006432.5(NPC2):c.169G>A (p.Val57Ile) rs774036281 0.00003
NM_006432.5(NPC2):c.216C>T (p.Ala72=) rs773861377 0.00003
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg) rs930750290 0.00003
NM_006432.5(NPC2):c.453C>G (p.Leu151=) rs766378122 0.00003
NM_006432.5(NPC2):c.83-4G>A rs758359849 0.00003
NM_006432.5(NPC2):c.207C>T (p.Ser69=) rs970173671 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006432.5(NPC2):c.45C>A (p.Thr15=) rs1025180543 0.00002
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.129C>T (p.Pro43=) rs760668431 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.150C>T (p.Ser50=) rs2086712392 0.00001
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro) rs767080399 0.00001
NM_006432.5(NPC2):c.183C>T (p.Phe61=) rs768296377 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.190+6dup rs770729278 0.00001
NM_006432.5(NPC2):c.191-10T>C rs907643924 0.00001
NM_006432.5(NPC2):c.191-8T>C rs1404077821 0.00001
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile) rs1391222276 0.00001
NM_006432.5(NPC2):c.222G>A (p.Val74=) rs763523833 0.00001
NM_006432.5(NPC2):c.240C>T (p.Gly80=) rs773836291 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006432.5(NPC2):c.312C>T (p.Asp104=) rs751455041 0.00001
NM_006432.5(NPC2):c.318C>G (p.Thr106=) rs763613633 0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) rs104894458 0.00001
NM_006432.5(NPC2):c.364-11T>C rs751545027 0.00001
NM_006432.5(NPC2):c.364-13T>C rs897207821 0.00001
NM_006432.5(NPC2):c.364-3C>T rs927248655 0.00001
NM_006432.5(NPC2):c.370C>T (p.Leu124=) rs757968557 0.00001
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu) rs2086648005 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006432.5(NPC2):c.429C>A (p.Ile143=) rs528199992 0.00001
NM_006432.5(NPC2):c.441+9A>G rs372464598 0.00001
NM_006432.5(NPC2):c.455A>G (p.Ter152=) rs1162911732 0.00001
NM_006432.5(NPC2):c.63G>A (p.Pro21=) rs1299194959 0.00001
NM_006432.5(NPC2):c.69G>A (p.Gln23=) rs760160779 0.00001
NM_006432.5(NPC2):c.82+15C>G rs1261259335 0.00001
NM_006432.5(NPC2):c.82+7C>T rs771418765 0.00001
NM_006432.5(NPC2):c.82+9C>T rs553819330 0.00001
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys) rs753010998 0.00001
NC_000014.8:g.(?_74946967)_(74947492_?)del
NC_000014.8:g.(?_74951108)_(74953149_?)del
NC_000014.8:g.(?_74959886)_(74959987_?)del
NC_000014.9:g.(?_74480254)_(74486456_?)del
NC_000014.9:g.(?_74480264)_(74493284_?)del
NM_006432.5(NPC2):c.100A>G (p.Ile34Val)
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) rs2139670174
NM_006432.5(NPC2):c.108A>G (p.Glu36=)
NM_006432.5(NPC2):c.10C>T (p.Leu4=)
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
NM_006432.5(NPC2):c.117G>T (p.Val39=)
NM_006432.5(NPC2):c.120C>T (p.Ser40=)
NM_006432.5(NPC2):c.123A>G (p.Pro41=)
NM_006432.5(NPC2):c.129C>A (p.Pro43=)
NM_006432.5(NPC2):c.129del (p.Thr44fs)
NM_006432.5(NPC2):c.12G>A (p.Leu4=) rs2139676633
NM_006432.5(NPC2):c.12_18del (p.Ala5fs)
NM_006432.5(NPC2):c.130_131del (p.Thr44fs)
NM_006432.5(NPC2):c.132C>A (p.Thr44=)
NM_006432.5(NPC2):c.132C>T (p.Thr44=)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) rs2086712538
NM_006432.5(NPC2):c.145C>T (p.Leu49=)
NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter) rs2086712337
NM_006432.5(NPC2):c.15A>G (p.Ala5=)
NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) rs2086712268
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.17_18insCAGGAAACGC (p.Thr7fs)
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
NM_006432.5(NPC2):c.186C>T (p.Thr62=)
NM_006432.5(NPC2):c.190+14G>T
NM_006432.5(NPC2):c.190+16T>C
NM_006432.5(NPC2):c.190+17C>T
NM_006432.5(NPC2):c.190+1G>C
NM_006432.5(NPC2):c.191-14T>C
NM_006432.5(NPC2):c.191-14dup rs748909227
NM_006432.5(NPC2):c.191-18T>C
NM_006432.5(NPC2):c.191-18del
NM_006432.5(NPC2):c.191-1G>A
NM_006432.5(NPC2):c.191-1_193del rs1555345873
NM_006432.5(NPC2):c.191-4T>A
NM_006432.5(NPC2):c.191-7C>G rs2086689980
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.1A>G (p.Met1Val) rs1555346369
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu) rs750426509
NM_006432.5(NPC2):c.202A>T (p.Lys68Ter)
NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) rs2086689501
NM_006432.5(NPC2):c.216C>A (p.Ala72=) rs773861377
NM_006432.5(NPC2):c.216C>G (p.Ala72=)
NM_006432.5(NPC2):c.217G>A (p.Val73Met)
NM_006432.5(NPC2):c.218del (p.Val73fs)
NM_006432.5(NPC2):c.21A>G (p.Thr7=) rs150211005
NM_006432.5(NPC2):c.222G>C (p.Val74=) rs763523833
NM_006432.5(NPC2):c.232C>G (p.Leu78Val)
NM_006432.5(NPC2):c.234G>A (p.Leu78=)
NM_006432.5(NPC2):c.241G>A (p.Val81Ile)
NM_006432.5(NPC2):c.246A>T (p.Pro82=)
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
NM_006432.5(NPC2):c.258C>T (p.Pro86=)
NM_006432.5(NPC2):c.259A>T (p.Ile87Phe)
NM_006432.5(NPC2):c.25C>T (p.Leu9=) rs1033995785
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser) rs2139668049
NM_006432.5(NPC2):c.267G>A (p.Glu89=)
NM_006432.5(NPC2):c.270T>A (p.Pro90=)
NM_006432.5(NPC2):c.276T>C (p.Gly92=)
NM_006432.5(NPC2):c.279T>C (p.Cys93=)
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.27G>A (p.Leu9=) rs1362951124
NM_006432.5(NPC2):c.27G>C (p.Leu9=) rs1362951124
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.281dup (p.Ser95fs) rs2139668010
NM_006432.5(NPC2):c.289del (p.Ile97fs)
NM_006432.5(NPC2):c.294C>T (p.Asn98=)
NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) rs2086687936
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) rs2086687936
NM_006432.5(NPC2):c.298C>A (p.Pro100Thr)
NM_006432.5(NPC2):c.2T>A (p.Met1Lys)
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)
NM_006432.5(NPC2):c.300T>C (p.Pro100=)
NM_006432.5(NPC2):c.303C>G (p.Ile101Met)
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) rs2086687862
NM_006432.5(NPC2):c.315G>A (p.Lys105=)
NM_006432.5(NPC2):c.318C>T (p.Thr106=) rs763613633
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)
NM_006432.5(NPC2):c.327C>T (p.Tyr109=) rs2139667951
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) rs2086687425
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
NM_006432.5(NPC2):c.342A>G (p.Pro114=)
NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)
NM_006432.5(NPC2):c.351C>T (p.Ser117=) rs1183033999
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys) rs80358266
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) rs2086687086
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.360C>T (p.Pro120=)
NM_006432.5(NPC2):c.363+13A>G
NM_006432.5(NPC2):c.363+16_363+18del rs747880187
NM_006432.5(NPC2):c.363+17T>C
NM_006432.5(NPC2):c.363+18T>A
NM_006432.5(NPC2):c.363+1G>A
NM_006432.5(NPC2):c.363+20A>G
NM_006432.5(NPC2):c.363+9T>C
NM_006432.5(NPC2):c.364-10C>T rs2086648557
NM_006432.5(NPC2):c.364-20T>C
NM_006432.5(NPC2):c.364-20T>G
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006432.5(NPC2):c.364-8T>G rs1352203929
NM_006432.5(NPC2):c.36G>A (p.Ala12=)
NM_006432.5(NPC2):c.372G>C (p.Leu124=) rs2139664545
NM_006432.5(NPC2):c.373G>T (p.Val125Leu)
NM_006432.5(NPC2):c.375G>A (p.Val125=) rs2139664539
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp) rs1412520435
NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)
NM_006432.5(NPC2):c.393G>A (p.Gln131=)
NM_006432.5(NPC2):c.39C>G (p.Leu13=)
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>T (p.Met1Ile)
NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)
NM_006432.5(NPC2):c.414C>T (p.Leu138=)
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.437A>G (p.Gln146Arg) rs2139664443
NM_006432.5(NPC2):c.441+10T>C
NM_006432.5(NPC2):c.441+12T>C
NM_006432.5(NPC2):c.441+13G>A
NM_006432.5(NPC2):c.441+13G>T
NM_006432.5(NPC2):c.441+14G>C
NM_006432.5(NPC2):c.441+16G>T
NM_006432.5(NPC2):c.441+17G>C
NM_006432.5(NPC2):c.441+8T>C
NM_006432.5(NPC2):c.441+9A>T rs372464598
NM_006432.5(NPC2):c.442-10A>G
NM_006432.5(NPC2):c.442-13A>G
NM_006432.5(NPC2):c.442-17G>A
NM_006432.5(NPC2):c.442-17G>C
NM_006432.5(NPC2):c.442-1G>A rs1555345562
NM_006432.5(NPC2):c.442-4A>G rs114950106
NM_006432.5(NPC2):c.442-8A>G
NM_006432.5(NPC2):c.442-9C>T
NM_006432.5(NPC2):c.453C>T (p.Leu151=) rs766378122
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) rs2086642019
NM_006432.5(NPC2):c.51C>A (p.Ala17=) rs1260452199
NM_006432.5(NPC2):c.54G>A (p.Gln18=)
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
NM_006432.5(NPC2):c.72C>T (p.Phe24=)
NM_006432.5(NPC2):c.79dup (p.Cys27fs) rs767899043
NM_006432.5(NPC2):c.82+10A>C
NM_006432.5(NPC2):c.82+12G>A
NM_006432.5(NPC2):c.82+13C>A
NM_006432.5(NPC2):c.82+15C>A
NM_006432.5(NPC2):c.82+15C>T
NM_006432.5(NPC2):c.82+16G>A
NM_006432.5(NPC2):c.82+17C>T
NM_006432.5(NPC2):c.82+2T>C rs879253740
NM_006432.5(NPC2):c.82+6C>T rs1450006465
NM_006432.5(NPC2):c.82+6dup rs2139676497
NM_006432.5(NPC2):c.82+8C>G
NM_006432.5(NPC2):c.83-11T>C
NM_006432.5(NPC2):c.83-15A>G rs1405062063
NM_006432.5(NPC2):c.83-19A>G rs2139670208
NM_006432.5(NPC2):c.83-20A>G
NM_006432.5(NPC2):c.83-2A>T
NM_006432.5(NPC2):c.83-5T>C
NM_006432.5(NPC2):c.83-8T>G
NM_006432.5(NPC2):c.87_91delinsCACAGAACCTGCAAATCCACAATGGAGTTATAAAGGAAGTTATAAATCCACA (p.Val30fs)
NM_006432.5(NPC2):c.91del (p.Asp31fs)
NM_006432.5(NPC2):c.94G>A (p.Gly32Arg)
NM_006432.5(NPC2):c.9C>T (p.Phe3=) rs1300524708

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