ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease by Natera, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
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_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_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
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_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.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.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748 0.00010
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_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.2246-6C>T rs757950161 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 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.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_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 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.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 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.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.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_000543.5(SMPD1):c.1477C>T (p.Leu493Phe) rs1345053174 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.1371T>C (p.Tyr457=) rs779065920 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser) rs200291759 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 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.887G>A (p.Arg296Gln) rs774386583 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala) rs770561559 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.712G>A (p.Ala238Thr) rs748936934 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.1411C>T (p.Pro471Ser) rs2058927956
NM_000271.5(NPC1):c.175G>T (p.Val59Leu) rs1365313736
NM_000271.5(NPC1):c.180+8C>A rs778096289
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.2300C>G (p.Ala767Gly) rs748589476
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val) rs769193340
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr) rs2058638089
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
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_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.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.10T>C (p.Tyr4His) rs1400503556
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.318+7A>G rs747913628
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala) rs1366957686
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu) rs1172255199
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.995C>G (p.Pro332Arg) rs202081954
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) rs2086642019
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260

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