ClinVar Miner

List of variants reported as uncertain significance for Huntington disease-like syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.-148C>T rs555695029 0.00150
NM_001386393.1(PANK2):c.*382C>T rs71647861 0.00144
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.101-14T>G rs202024224 0.00098
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_033305.3(VPS13A):c.*279A>T rs191865643 0.00095
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_033305.3(VPS13A):c.*933A>G rs561135773 0.00085
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_001386393.1(PANK2):c.*541C>T rs886056655 0.00055
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_033305.3(VPS13A):c.*185A>G rs773434698 0.00043
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) rs138568018 0.00014
NM_033305.3(VPS13A):c.*1194A>C rs556413345 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_033305.3(VPS13A):c.1785+7A>G rs367906505 0.00011
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_033305.3(VPS13A):c.*474G>A rs531360785 0.00010
NM_033305.3(VPS13A):c.-158G>C rs1057515644 0.00010
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) rs151129933 0.00010
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) rs143067406 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) rs148227344 0.00007
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567 0.00007
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val) rs750174637 0.00006
NM_033305.3(VPS13A):c.8212-15G>A rs771085531 0.00006
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) rs201517936 0.00006
NM_001386393.1(PANK2):c.*376A>G rs746515620 0.00005
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr) rs370950513 0.00005
NM_033305.3(VPS13A):c.755-7T>C rs377234046 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_001386393.1(PANK2):c.*534A>G rs780398812 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_033305.3(VPS13A):c.*665C>G rs41289985 0.00004
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) rs189129300 0.00004
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) rs369818421 0.00004
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) rs141164942 0.00004
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr) rs200616248 0.00004
NM_033305.3(VPS13A):c.6840T>C (p.His2280=) rs750072063 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803 0.00004
NM_033305.3(VPS13A):c.*182G>A rs983693743 0.00003
NM_033305.3(VPS13A):c.-150C>T rs560445300 0.00003
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) rs757415947 0.00003
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu) rs772689261 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys) rs772152953 0.00003
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 0.00003
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466 0.00003
NM_033305.3(VPS13A):c.9077+8C>G rs1325690140 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_033305.3(VPS13A):c.*1095A>G rs956751748 0.00002
NM_033305.3(VPS13A):c.*481G>A rs1057515664 0.00002
NM_033305.3(VPS13A):c.*503C>A rs1057515665 0.00002
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) rs777234852 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.6379-12T>G rs865850464 0.00002
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn) rs780035378 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser) rs750460516 0.00002
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val) rs892450419 0.00002
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro) rs758989403 0.00002
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) rs755095881 0.00002
NM_000146.4(FTL):c.*131A>T rs374919004 0.00001
NM_000146.4(FTL):c.-86C>T rs1319264120 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_001386393.1(PANK2):c.*391C>G rs1273989006 0.00001
NM_001386393.1(PANK2):c.*407A>G rs886056654 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_033305.3(VPS13A):c.*1078T>G rs951051787 0.00001
NM_033305.3(VPS13A):c.*1140A>T rs1360751714 0.00001
NM_033305.3(VPS13A):c.*663T>C rs1172989781 0.00001
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) rs202123189 0.00001
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) rs1042881230 0.00001
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu) rs1238647708 0.00001
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) rs749655544 0.00001
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp) rs769146492 0.00001
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) rs368157358 0.00001
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) rs1274810899 0.00001
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys) rs1380006812 0.00001
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) rs72744294 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala) rs377532527 0.00001
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val) rs1016550070 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.587A>G (p.His196Arg) rs750690177 0.00001
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863 0.00001
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe) rs1830592063 0.00001
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys) rs1168343737 0.00001
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) rs771133301 0.00001
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) rs192942248 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) rs558287069 0.00001
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) rs757219762 0.00001
NM_033305.3(VPS13A):c.8668-3T>C rs774310931 0.00001
NM_033305.3(VPS13A):c.9234T>C (p.His3078=) rs766370355 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) rs769505139 0.00001
NM_000146.4(FTL):c.*76G>A rs2038463168
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) rs2038446561
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) rs751857518
NM_000146.4(FTL):c.324C>T (p.Asn108=) rs754652110
NM_001386393.1(PANK2):c.*468T>C rs541731517
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-29C>T rs573948434
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) rs2090073827
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_033305.2(VPS13A):c.-183G>A rs12349389
NM_033305.2(VPS13A):c.-232G>C rs545092496
NM_033305.2(VPS13A):c.-264G>C rs542679691
NM_033305.3(VPS13A):c.*106T>G rs1835160786
NM_033305.3(VPS13A):c.*1133A>C rs182044001
NM_033305.3(VPS13A):c.*1248_*1251dup rs1057515668
NM_033305.3(VPS13A):c.*133CAAA[1] rs914078686
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.*409A>G rs975807327
NM_033305.3(VPS13A):c.*774_*776del rs549219168
NM_033305.3(VPS13A):c.*81A>G rs1057515661
NM_033305.3(VPS13A):c.*990T>A rs1203318328
NM_033305.3(VPS13A):c.-16A>T rs372360076
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) rs774931205
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) rs550188251
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.159A>G (p.Val53=) rs1057515645
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) rs1057515651
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) rs759600403
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) rs1057515652
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) rs1826457641
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn) rs1826653395
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp) rs757651034
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) rs1826936558
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala) rs1248091059
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) rs759258746
NM_033305.3(VPS13A):c.3340-5_3340-3del rs746510956
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn) rs1392223813
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys) rs1829245513
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val) rs1829532129
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) rs1829726014
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val) rs1287394997
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) rs760875004
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) rs1057515659
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His) rs774310423
NM_033305.3(VPS13A):c.8472-11G>T rs1281741862
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) rs1057515660
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) rs773932109
NM_033305.3(VPS13A):c.989+28del rs751974264
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) rs558404718
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650

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