ClinVar Miner

List of variants studied for Niemann-Pick disease by Natera, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 298
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000543.5(SMPD1):c.*74A>C rs1803160 0.02334
NM_000271.5(NPC1):c.1554-1021A>T rs73392141 0.02008
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu) rs767539123 0.01904
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met) rs140806787 0.00192
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000543.5(SMPD1):c.1340+7C>T rs116480929 0.00144
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
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_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988 0.00014
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948 0.00014
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
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.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.534C>T (p.Ile178=) rs142147633 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963 0.00009
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp) rs139485263 0.00009
NM_000543.5(SMPD1):c.733T>C (p.Tyr245His) rs370178721 0.00009
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile) rs370828368 0.00008
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_006432.5(NPC2):c.-1G>C rs756433737 0.00007
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) rs369392502 0.00007
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000271.5(NPC1):c.2246-6C>T rs757950161 0.00006
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.563A>G (p.Asn188Ser) rs549048534 0.00006
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg) rs368200803 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000271.5(NPC1):c.956-10G>A rs755660832 0.00005
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=) rs774989668 0.00005
NM_000543.5(SMPD1):c.618C>T (p.Leu206=) rs776180872 0.00005
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000271.5(NPC1):c.123T>C (p.Asn41=) rs777848348 0.00004
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_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000271.5(NPC1):c.2130+10C>G rs776389852 0.00003
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp) rs766822145 0.00003
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) rs558264503 0.00003
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=) rs138588535 0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_006432.5(NPC2):c.169G>A (p.Val57Ile) rs774036281 0.00003
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051 0.00002
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578 0.00002
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu) rs755143457 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe) rs1345053174 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1356C>T (p.Asn452=) rs758508630 0.00001
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2055T>C (p.Ile685=) rs199856145 0.00001
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser) rs200291759 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.2508A>G (p.Pro836=) rs1468600723 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 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.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.615C>T (p.Ile205=) rs767452406 0.00001
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr) rs536360132 0.00001
NM_000271.5(NPC1):c.783G>A (p.Thr261=) rs770731602 0.00001
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln) rs774386583 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.126G>A (p.Ala42=) rs571806745 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=) rs554647710 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala) rs770561559 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.26G>T (p.Arg9Leu) rs373013062 0.00001
NM_000543.5(SMPD1):c.283A>C (p.Lys95Gln) rs886044321 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.318+5G>A rs375723261 0.00001
NM_000543.5(SMPD1):c.390T>G (p.Pro130=) rs371141815 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_000271.5(NPC1):c.1089G>T (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.1318C>T (p.Leu440=) rs1390796169
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser) rs2058927956
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1554-1057G>C rs189881566
NM_000271.5(NPC1):c.175G>T (p.Val59Leu) rs1365313736
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.2079G>A (p.Leu693=) rs2058754303
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly) rs748589476
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val) rs769193340
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.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr) rs2058638089
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.44T>G (p.Leu15Arg) rs2059417979
NM_000271.5(NPC1):c.476C>T (p.Ala159Val) rs2059038990
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln) rs752145311
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.10T>C (p.Tyr4His) rs1400503556
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1471A>C (p.Ile491Leu) rs1429766647
NM_000543.5(SMPD1):c.1471A>G (p.Ile491Val) rs1429766647
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.318+7A>G rs747913628
NM_000543.5(SMPD1):c.348C>T (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala) rs1366957686
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu) rs1172255199
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.861G>C (p.Trp287Cys) rs1319381364
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) rs2086642019
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260

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