ClinVar Miner

List of variants in gene ITPR1

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Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP
GRCh37/hg19 3p26.1(chr3:4513497-4612609)x1
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.107G>A (p.Arg36His) rs1057518026
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.1207-1G>C rs1064796337
NM_001168272.1(ITPR1):c.1207-2A>T rs1559638068
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.141C>T (p.Asn47=)
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.1509+6T>G rs371214686
NM_001168272.1(ITPR1):c.1561C>T (p.Leu521Phe) rs1553681680
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.1654T>C (p.Tyr552His) rs1553681758
NM_001168272.1(ITPR1):c.1655A>C (p.Tyr552Ser) rs1131691919
NM_001168272.1(ITPR1):c.1657A>G (p.Arg553Gly) rs1322796318
NM_001168272.1(ITPR1):c.1669-12C>T rs765853714
NM_001168272.1(ITPR1):c.1674T>C (p.Tyr558=)
NM_001168272.1(ITPR1):c.1759A>G (p.Asn587Asp) rs397514536
NM_001168272.1(ITPR1):c.1768C>T (p.Leu590Phe) rs1064796252
NM_001168272.1(ITPR1):c.1787C>A (p.Thr596Asn) rs1553682680
NM_001168272.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001168272.1(ITPR1):c.1841+7C>T rs181465598
NM_001168272.1(ITPR1):c.1864C>A (p.Leu622Ile) rs1553683825
NM_001168272.1(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_001168272.1(ITPR1):c.188T>C (p.Met63Thr) rs370953766
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.2062G>A (p.Asp688Asn)
NM_001168272.1(ITPR1):c.2066G>A (p.Ser689Asn)
NM_001168272.1(ITPR1):c.2129A>C (p.Lys710Thr) rs797045632
NM_001168272.1(ITPR1):c.2137C>T (p.Arg713Ter) rs878853172
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.2410G>T (p.Asp804Tyr) rs200199463
NM_001168272.1(ITPR1):c.2432C>T (p.Ser811Phe) rs1553686424
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.2638A>G (p.Ile880Val)
NM_001168272.1(ITPR1):c.2682G>A (p.Lys894=)
NM_001168272.1(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_001168272.1(ITPR1):c.2688G>A (p.Ala896=) rs562572079
NM_001168272.1(ITPR1):c.2728C>G (p.Leu910Val) rs761743436
NM_001168272.1(ITPR1):c.2735-8T>C rs558804336
NM_001168272.1(ITPR1):c.2761G>A (p.Gly921Ser) rs1559671950
NM_001168272.1(ITPR1):c.279+4_279+7del rs1553654413
NM_001168272.1(ITPR1):c.279C>T (p.His93=) rs371299264
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.2934_2935insTATA (p.Val979fs) rs1553689752
NM_001168272.1(ITPR1):c.2T>C (p.Met1Thr)
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.3203C>T (p.Pro1068Leu) rs121912425
NM_001168272.1(ITPR1):c.3206C>T (p.Pro1069Leu) rs1467772045
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.3619G>A (p.Ala1207Thr) rs372881053
NM_001168272.1(ITPR1):c.361A>T (p.Ile121Phe) rs532037891
NM_001168272.1(ITPR1):c.366+15C>T rs145989158
NM_001168272.1(ITPR1):c.366+6T>A rs1559591437
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.3785T>A (p.Ile1262Asn) rs773030719
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_001168272.1(ITPR1):c.3871G>A (p.Val1291Ile) rs187604016
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.3900T>C (p.Asn1300=) rs193212750
NM_001168272.1(ITPR1):c.4006G>A (p.Val1336Ile) rs1553697090
NM_001168272.1(ITPR1):c.4038C>A (p.Phe1346Leu) rs763239856
NM_001168272.1(ITPR1):c.4082A>T (p.Asp1361Val)
NM_001168272.1(ITPR1):c.4182G>C (p.Leu1394=) rs555819278
NM_001168272.1(ITPR1):c.4206C>T (p.Arg1402=) rs375223250
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.4288G>A (p.Val1430Met) rs1559718601
NM_001168272.1(ITPR1):c.4362+7C>T rs886042210
NM_001168272.1(ITPR1):c.4379G>T (p.Ser1460Ile) rs1206311675
NM_001168272.1(ITPR1):c.438C>T (p.Ala146=) rs61741506
NM_001168272.1(ITPR1):c.4390C>T (p.His1464Tyr) rs943946433
NM_001168272.1(ITPR1):c.4392T>C (p.His1464=) rs758498603
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=)
NM_001168272.1(ITPR1):c.4481C>G (p.Thr1494Arg) rs370021605
NM_001168272.1(ITPR1):c.4578C>T (p.Ser1526=) rs34748547
NM_001168272.1(ITPR1):c.4588T>A (p.Cys1530Ser) rs1559731146
NM_001168272.1(ITPR1):c.4595G>A (p.Arg1532Gln) rs1250105592
NM_001168272.1(ITPR1):c.4624G>T (p.Ala1542Ser) rs886058615
NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met) rs397514535
NM_001168272.1(ITPR1):c.4654C>T (p.Gln1552Ter) rs878853171
NM_001168272.1(ITPR1):c.4674C>G (p.Leu1558=) rs375679048
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.4798-8C>T rs41304179
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.4980A>C (p.Glu1660Asp) rs1553706329
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.5256C>A (p.Ser1752Arg)
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.5459T>C (p.Leu1820Pro) rs1114167316
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.5628A>G (p.Gly1876=) rs1553735513
NM_001168272.1(ITPR1):c.5646T>C (p.Asp1882=) rs371661663
NM_001168272.1(ITPR1):c.5721T>C (p.Asp1907=) rs201311531
NM_001168272.1(ITPR1):c.5744C>A (p.Ala1915Asp)
NM_001168272.1(ITPR1):c.57G>A (p.Ala19=) rs200534989
NM_001168272.1(ITPR1):c.5822C>T (p.Ala1941Val)
NM_001168272.1(ITPR1):c.6072G>A (p.Ala2024=) rs139528715
NM_001168272.1(ITPR1):c.6090G>A (p.Leu2030=) rs754434409
NM_001168272.1(ITPR1):c.6110G>C (p.Cys2037Ser) rs1553740488
NM_001168272.1(ITPR1):c.6135+11T>A rs772860677
NM_001168272.1(ITPR1):c.625-14A>T rs368114873
NM_001168272.1(ITPR1):c.6281A>G (p.Glu2094Gly) rs878853177
NM_001168272.1(ITPR1):c.6304G>T (p.Ala2102Ser) rs373973399
NM_001168272.1(ITPR1):c.6402C>T (p.Asn2134=) rs202123078
NM_001168272.1(ITPR1):c.6465+3A>T rs878853173
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+4G>A
NM_001168272.1(ITPR1):c.6763+5G>T rs878853174
NM_001168272.1(ITPR1):c.6763+8C>G rs2270749
NM_001168272.1(ITPR1):c.6867G>A (p.Pro2289=) rs200426774
NM_001168272.1(ITPR1):c.6948C>T (p.Ile2316=) rs369778265
NM_001168272.1(ITPR1):c.6997A>G (p.Thr2333Ala)
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.7307T>C (p.Leu2436Pro) rs1553756062
NM_001168272.1(ITPR1):c.731A>C (p.His244Pro) rs1085308010
NM_001168272.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001168272.1(ITPR1):c.7344C>T (p.Phe2448=) rs200487406
NM_001168272.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001168272.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001168272.1(ITPR1):c.7461C>T (p.Ser2487=) rs375227391
NM_001168272.1(ITPR1):c.7464T>C (p.Asp2488=) rs79720149
NM_001168272.1(ITPR1):c.7483G>A (p.Gly2495Arg) rs868822649
NM_001168272.1(ITPR1):c.7517-11C>T rs368532017
NM_001168272.1(ITPR1):c.7585G>A (p.Val2529Ile)
NM_001168272.1(ITPR1):c.7590T>C (p.Thr2530=) rs711631
NM_001168272.1(ITPR1):c.7603G>A (p.Gly2535Arg) rs1553757628
NM_001168272.1(ITPR1):c.7614C>T (p.Ser2538=) rs200562410
NM_001168272.1(ITPR1):c.7615G>A (p.Gly2539Arg) rs752281590
NM_001168272.1(ITPR1):c.7615G>C (p.Gly2539Arg) rs752281590
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.7656+3A>G
NM_001168272.1(ITPR1):c.7692C>T (p.Leu2564=) rs148734757
NM_001168272.1(ITPR1):c.7730T>C (p.Leu2577Pro) rs1131691473
NM_001168272.1(ITPR1):c.7739G>A (p.Gly2580Glu) rs869312685
NM_001168272.1(ITPR1):c.7739G>C (p.Gly2580Ala) rs869312685
NM_001168272.1(ITPR1):c.7748T>A (p.Ile2583Asn) rs1553758021
NM_001168272.1(ITPR1):c.7748T>C (p.Ile2583Thr) rs1553758021
NM_001168272.1(ITPR1):c.7758T>G (p.Phe2586Leu) rs878853176
NM_001168272.1(ITPR1):c.7783_7785AAG[1] (p.Lys2596del) rs878853175
NM_001168272.1(ITPR1):c.7809G>A (p.Thr2603=) rs777975463
NM_001168272.1(ITPR1):c.780G>A (p.Gln260=) rs549363319
NM_001168272.1(ITPR1):c.789C>T (p.Phe263=) rs369681244
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_001168272.1(ITPR1):c.7920G>A (p.Leu2640=) rs775463557
NM_001168272.1(ITPR1):c.7941C>T (p.Thr2647=) rs368405302
NM_001168272.1(ITPR1):c.7965C>T (p.Tyr2655=) rs372433483
NM_001168272.1(ITPR1):c.799A>G (p.Thr267Ala) rs1553666615
NM_001168272.1(ITPR1):c.800C>G (p.Thr267Arg)
NM_001168272.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
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.829A>G (p.Ser277Gly) rs1559603629
NM_001168272.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882
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
NM_001168272.1(ITPR1):c.989G>A (p.Arg330Gln)

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