ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease, type C1 by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
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_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.1480G>A (p.Val494Met) rs199812609 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_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 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_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 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_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_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_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_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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.