ClinVar Miner

List of variants in gene ITPR1 studied for Spinocerebellar Ataxia, Dominant

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Total variants: 143
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HGVS dbSNP
NM_001168272.1(ITPR1):c.*1008A>G rs141084091
NM_001168272.1(ITPR1):c.*1061T>G rs886058652
NM_001168272.1(ITPR1):c.*1076_*1080TTCTT[1] rs886058653
NM_001168272.1(ITPR1):c.*1156A>C rs73099961
NM_001168272.1(ITPR1):c.*1169_*1170insAA rs752544427
NM_001168272.1(ITPR1):c.*1169_*1170insAAA rs752544427
NM_001168272.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001168272.1(ITPR1):c.*1184_*1185insAACAAA rs1553771554
NM_001168272.1(ITPR1):c.*1184del rs3079679
NM_001168272.1(ITPR1):c.*1185C>A rs867347513
NM_001168272.1(ITPR1):c.*1196T>C rs565045968
NM_001168272.1(ITPR1):c.*1198C>T rs367636150
NM_001168272.1(ITPR1):c.*121G>C rs146903558
NM_001168272.1(ITPR1):c.*1266G>A rs886058655
NM_001168272.1(ITPR1):c.*1347G>T rs547675218
NM_001168272.1(ITPR1):c.*1385A>G rs9875113
NM_001168272.1(ITPR1):c.*13A>T rs886058644
NM_001168272.1(ITPR1):c.*1481del rs886058656
NM_001168272.1(ITPR1):c.*1531G>A rs9817206
NM_001168272.1(ITPR1):c.*1531G>T rs9817206
NM_001168272.1(ITPR1):c.*1533G>A rs377290142
NM_001168272.1(ITPR1):c.*1611G>A rs565800630
NM_001168272.1(ITPR1):c.*279A>G rs886058645
NM_001168272.1(ITPR1):c.*312G>A rs886058646
NM_001168272.1(ITPR1):c.*356_*357TG[1] rs113825412
NM_001168272.1(ITPR1):c.*47G>C rs74998763
NM_001168272.1(ITPR1):c.*48T>G rs77764633
NM_001168272.1(ITPR1):c.*539_*540dup rs886058648
NM_001168272.1(ITPR1):c.*549G>T rs781519977
NM_001168272.1(ITPR1):c.*643A>T rs41305987
NM_001168272.1(ITPR1):c.*668T>C rs886058649
NM_001168272.1(ITPR1):c.*740T>C rs886058650
NM_001168272.1(ITPR1):c.*777C>T rs41315884
NM_001168272.1(ITPR1):c.*814_*817dup rs148070806
NM_001168272.1(ITPR1):c.*847G>A rs41304181
NM_001168272.1(ITPR1):c.-103C>T rs750565307
NM_001168272.1(ITPR1):c.-143C>A rs886058524
NM_001168272.1(ITPR1):c.-158C>G rs886058523
NM_001168272.1(ITPR1):c.-244G>A rs577585180
NM_001168272.1(ITPR1):c.-2A>G rs369723935
NM_001168272.1(ITPR1):c.-342C>T rs886058522
NM_001168272.1(ITPR1):c.-81A>G rs13319720
NM_001168272.1(ITPR1):c.1080G>A (p.Leu360=) rs2306869
NM_001168272.1(ITPR1):c.1080G>C (p.Leu360=) rs2306869
NM_001168272.1(ITPR1):c.1106+5C>G rs2306868
NM_001168272.1(ITPR1):c.1206+10G>A rs75936691
NM_001168272.1(ITPR1):c.1257G>A (p.Pro419=) rs34252981
NM_001168272.1(ITPR1):c.1367+11C>T rs7632000
NM_001168272.1(ITPR1):c.1367+13G>A rs11920643
NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_001168272.1(ITPR1):c.1452C>T (p.Phe484=) rs778521012
NM_001168272.1(ITPR1):c.1491A>G (p.Glu497=) rs35047189
NM_001168272.1(ITPR1):c.1578C>T (p.Leu526=) rs886058612
NM_001168272.1(ITPR1):c.1626C>T (p.Tyr542=) rs886058613
NM_001168272.1(ITPR1):c.1669-12C>T rs765853714
NM_001168272.1(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_001168272.1(ITPR1):c.195C>G (p.Arg65=) rs563347395
NM_001168272.1(ITPR1):c.1962-3T>C rs200335594
NM_001168272.1(ITPR1):c.1962-7T>G rs764512335
NM_001168272.1(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_001168272.1(ITPR1):c.2159+14G>A rs529693973
NM_001168272.1(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_001168272.1(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_001168272.1(ITPR1):c.2260A>G (p.Met754Val) rs35789999
NM_001168272.1(ITPR1):c.2382G>A (p.Ser794=) rs553559062
NM_001168272.1(ITPR1):c.2388T>A (p.Ile796=) rs145220403
NM_001168272.1(ITPR1):c.2394G>A (p.Ser798=) rs35946460
NM_001168272.1(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_001168272.1(ITPR1):c.2613A>C (p.Leu871=) rs2306877
NM_001168272.1(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_001168272.1(ITPR1):c.2817G>A (p.Met939Ile) rs543514234
NM_001168272.1(ITPR1):c.2835C>T (p.Ala945=) rs764301997
NM_001168272.1(ITPR1):c.2895C>G (p.Thr965=) rs886058614
NM_001168272.1(ITPR1):c.3012A>G (p.Ser1004=) rs200705345
NM_001168272.1(ITPR1):c.3021C>G (p.Ser1007=) rs541386070
NM_001168272.1(ITPR1):c.3150C>T (p.His1050=) rs745351516
NM_001168272.1(ITPR1):c.3162C>T (p.Thr1054=) rs186541002
NM_001168272.1(ITPR1):c.3183C>T (p.His1061=) rs766131451
NM_001168272.1(ITPR1):c.3282+12C>T rs116022052
NM_001168272.1(ITPR1):c.3282+4G>A rs2306878
NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) rs199698357
NM_001168272.1(ITPR1):c.3416A>G (p.Asp1139Gly) rs61751570
NM_001168272.1(ITPR1):c.3510G>A (p.Val1170=) rs764767201
NM_001168272.1(ITPR1):c.3603G>A (p.Arg1201=) rs540908870
NM_001168272.1(ITPR1):c.3614C>T (p.Ala1205Val) rs773701050
NM_001168272.1(ITPR1):c.366+15C>T rs145989158
NM_001168272.1(ITPR1):c.3660C>G (p.Ala1220=) rs34635052
NM_001168272.1(ITPR1):c.3660C>T (p.Ala1220=) rs34635052
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168272.1(ITPR1):c.3900T>C (p.Asn1300=) rs193212750
NM_001168272.1(ITPR1):c.4182G>C (p.Leu1394=) rs555819278
NM_001168272.1(ITPR1):c.4209G>T (p.Val1403=) rs142527379
NM_001168272.1(ITPR1):c.4218C>G (p.His1406Gln) rs61757110
NM_001168272.1(ITPR1):c.4243A>G (p.Ile1415Val) rs3749383
NM_001168272.1(ITPR1):c.438C>T (p.Ala146=) rs61741506
NM_001168272.1(ITPR1):c.4578C>T (p.Ser1526=) rs34748547
NM_001168272.1(ITPR1):c.4624G>T (p.Ala1542Ser) rs886058615
NM_001168272.1(ITPR1):c.474G>A (p.Gly158=) rs886058578
NM_001168272.1(ITPR1):c.4792T>C (p.Leu1598=) rs367643585
NM_001168272.1(ITPR1):c.4809C>T (p.Ser1603=) rs373127487
NM_001168272.1(ITPR1):c.4881C>T (p.Pro1627=) rs886058616
NM_001168272.1(ITPR1):c.4947-7del rs546612625
NM_001168272.1(ITPR1):c.5010A>C (p.Leu1670=) rs886058618
NM_001168272.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001168272.1(ITPR1):c.5220C>T (p.Asn1740=) rs61757111
NM_001168272.1(ITPR1):c.5237G>A (p.Arg1746Gln) rs2291864
NM_001168272.1(ITPR1):c.5299G>A (p.Gly1767Arg) rs886058619
NM_001168272.1(ITPR1):c.5308+4C>T rs60849754
NM_001168272.1(ITPR1):c.5358C>T (p.Ala1786=) rs765524918
NM_001168272.1(ITPR1):c.5421C>T (p.Asn1807=) rs113368815
NM_001168272.1(ITPR1):c.5442C>T (p.Phe1814=) rs774018521
NM_001168272.1(ITPR1):c.5484C>G (p.Gly1828=) rs776891199
NM_001168272.1(ITPR1):c.5576T>G (p.Val1859Gly) rs143093165
NM_001168272.1(ITPR1):c.5721T>C (p.Asp1907=) rs201311531
NM_001168272.1(ITPR1):c.57G>A (p.Ala19=) rs200534989
NM_001168272.1(ITPR1):c.6090G>A (p.Leu2030=) rs754434409
NM_001168272.1(ITPR1):c.6135+11T>A rs772860677
NM_001168272.1(ITPR1):c.625-14A>T rs368114873
NM_001168272.1(ITPR1):c.6465+7T>C rs115430385
NM_001168272.1(ITPR1):c.6494G>A (p.Ser2165Asn) rs886058620
NM_001168272.1(ITPR1):c.6651A>G (p.Lys2217=) rs34491089
NM_001168272.1(ITPR1):c.6672A>G (p.Thr2224=) rs13079522
NM_001168272.1(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_001168272.1(ITPR1):c.6763+8C>G rs2270749
NM_001168272.1(ITPR1):c.6867G>A (p.Pro2289=) rs200426774
NM_001168272.1(ITPR1):c.7009C>T (p.Leu2337=) rs2291862
NM_001168272.1(ITPR1):c.7053C>T (p.Gly2351=) rs41290672
NM_001168272.1(ITPR1):c.7054G>A (p.Ala2352Thr) rs201144431
NM_001168272.1(ITPR1):c.7344C>T (p.Phe2448=) rs200487406
NM_001168272.1(ITPR1):c.7464T>C (p.Asp2488=) rs79720149
NM_001168272.1(ITPR1):c.7517-11C>T rs368532017
NM_001168272.1(ITPR1):c.7590T>C (p.Thr2530=) rs711631
NM_001168272.1(ITPR1):c.7632T>C (p.Asp2544=) rs886058626
NM_001168272.1(ITPR1):c.7644G>A (p.Lys2548=) rs901854
NM_001168272.1(ITPR1):c.7692C>T (p.Leu2564=) rs148734757
NM_001168272.1(ITPR1):c.7920G>A (p.Leu2640=) rs775463557
NM_001168272.1(ITPR1):c.8121C>A (p.Gly2707=) rs73098087
NM_001168272.1(ITPR1):c.8145+13_8145+14del rs552585900
NM_001168272.1(ITPR1):c.819A>G (p.Thr273=) rs886058580
NM_001168272.1(ITPR1):c.8203A>G (p.Met2735Val) rs201934670
NM_001168272.1(ITPR1):c.882C>T (p.Gly294=) rs370157764
NM_001168272.1(ITPR1):c.930G>A (p.Thr310=) rs28565126
NM_001168272.1(ITPR1):c.952-6C>T rs139421901

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