ClinVar Miner

List of variants studied for Huntington disease and related disorders by Natera, Inc.

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_033305.3(VPS13A):c.6379-7A>T rs759586753 0.07351
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) rs78046172 0.02340
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) rs76751358 0.02305
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) rs79287753 0.02299
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) rs76077278 0.02297
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01850
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01788
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) rs17081163 0.01458
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012 0.01345
NM_033305.3(VPS13A):c.7806+6A>G rs74810255 0.01231
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) rs115565179 0.00932
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) rs139753431 0.00641
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) rs73467954 0.00400
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=) rs73466090 0.00324
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu) rs142058362 0.00198
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn) rs74622901 0.00134
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=) rs73467955 0.00070
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_033305.3(VPS13A):c.8668-10G>C rs371453974 0.00039
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=) rs141940484 0.00036
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_033305.3(VPS13A):c.3508-8T>C rs376751858 0.00031
NM_033305.3(VPS13A):c.8907+10T>G rs373895244 0.00031
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) rs141109675 0.00026
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn) rs188070090 0.00026
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=) rs144477984 0.00024
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_033305.3(VPS13A):c.621C>T (p.Ile207=) rs146941948 0.00021
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=) rs112596608 0.00018
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=) rs117654083 0.00016
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) rs189718498 0.00014
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.126A>G (p.Gln42=) rs140518771 0.00013
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=) rs148754839 0.00013
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) rs145398548 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) rs147115148 0.00011
NM_033305.3(VPS13A):c.699C>T (p.Asp233=) rs138009035 0.00011
NM_033305.3(VPS13A):c.846G>A (p.Glu282=) rs376954549 0.00011
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val) rs185663133 0.00011
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=) rs776098236 0.00010
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=) rs372027471 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) rs182495915 0.00009
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=) rs145624888 0.00008
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) rs151069489 0.00006
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) rs755454094 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=) rs748268509 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) rs377418680 0.00005
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) rs191925614 0.00005
NM_033305.3(VPS13A):c.723T>C (p.Asn241=) rs749945516 0.00005
NM_033305.3(VPS13A):c.8953+7A>G rs375621860 0.00005
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=) rs149474259 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=) rs367698917 0.00004
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033305.3(VPS13A):c.3961-2A>C rs1244139989 0.00004
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=) rs763602189 0.00004
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) rs1042736663 0.00004
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=) rs571822890 0.00004
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=) rs779653365 0.00004
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) rs760025315 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=) rs143022525 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=) rs554457655 0.00003
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00003
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg) rs960135788 0.00002
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) rs750307161 0.00002
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) rs771943305 0.00002
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) rs764645153 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) rs369976472 0.00002
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=) rs773977853 0.00002
NM_033305.3(VPS13A):c.588T>C (p.His196=) rs192380515 0.00002
NM_033305.3(VPS13A):c.6489C>T (p.His2163=) rs773384343 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=) rs747802503 0.00002
NM_033305.3(VPS13A):c.7953+1G>A rs372141290 0.00002
NM_033305.3(VPS13A):c.8211+5G>A rs183316143 0.00002
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151 0.00002
NM_033305.3(VPS13A):c.900G>A (p.Glu300=) rs750958608 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) rs538279569 0.00002
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=) rs547171069 0.00001
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) rs750046579 0.00001
NM_033305.3(VPS13A):c.1734T>C (p.Val578=) rs201027855 0.00001
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser) rs757058290 0.00001
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) rs549929120 0.00001
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val) rs576941423 0.00001
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=) rs764549391 0.00001
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=) rs763126524 0.00001
NM_033305.3(VPS13A):c.284-4A>G rs534441636 0.00001
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala) rs542933158 0.00001
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=) rs767739134 0.00001
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=) rs569599272 0.00001
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) rs752509925 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) rs1438436648 0.00001
NM_033305.3(VPS13A):c.7290-10A>G rs777376932 0.00001
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=) rs774617189 0.00001
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=) rs753711996 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033305.3(VPS13A):c.9077+8C>T rs1325690140 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=) rs556865512
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=) rs757215593
NM_033305.3(VPS13A):c.2513-2A>T rs1037030970
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val) rs757651034
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe) rs1169530629
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) rs1232607771
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=) rs769379977
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) rs773982653
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) rs1829282039
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) rs1829384544
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) rs372255312
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) rs1181531896
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) rs139380985
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) rs149067717
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.5574+1G>A rs1829731758
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=) rs201300715
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) rs770789453
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7420-4C>T rs764829121
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.8211+9del rs752070804
NM_033305.3(VPS13A):c.8668-1G>A rs2131587158
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610

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