ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance

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Total variants: 115
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HGVS dbSNP
NM_001168272.1(ITPR1):c.182G>C (p.Cys61Ser)
NM_001168272.1(ITPR1):c.188T>C (p.Met63Thr) rs370953766
NM_001168272.1(ITPR1):c.2066G>A (p.Ser689Asn)
NM_001168272.1(ITPR1):c.2432C>T (p.Ser811Phe) rs1553686424
NM_001168272.1(ITPR1):c.2638A>G (p.Ile880Val)
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)
NM_001168272.1(ITPR1):c.3206C>T (p.Pro1069Leu) rs1467772045
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+6T>A
NM_001168272.1(ITPR1):c.3785T>A (p.Ile1262Asn) rs773030719
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.4362+7C>T rs886042210
NM_001168272.1(ITPR1):c.4379G>T (p.Ser1460Ile) rs1206311675
NM_001168272.1(ITPR1):c.4481C>G (p.Thr1494Arg) rs370021605
NM_001168272.1(ITPR1):c.4588T>A (p.Cys1530Ser)
NM_001168272.1(ITPR1):c.4595G>A (p.Arg1532Gln)
NM_001168272.1(ITPR1):c.5256C>A (p.Ser1752Arg)
NM_001168272.1(ITPR1):c.5628A>G (p.Gly1876=) rs1553735513
NM_001168272.1(ITPR1):c.5744C>A (p.Ala1915Asp)
NM_001168272.1(ITPR1):c.5822C>T (p.Ala1941Val)
NM_001168272.1(ITPR1):c.6110G>C (p.Cys2037Ser) rs1553740488
NM_001168272.1(ITPR1):c.6763+4G>A
NM_001168272.1(ITPR1):c.6997A>G (p.Thr2333Ala)
NM_001168272.1(ITPR1):c.7483G>A (p.Gly2495Arg) rs868822649
NM_001168272.1(ITPR1):c.7585G>A (p.Val2529Ile)
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_002222.5(ITPR1):c.*1061T>G rs886058652
NM_002222.5(ITPR1):c.*1081_*1085delTTCTT rs886058653
NM_002222.5(ITPR1):c.*1169_*1170insAA rs752544427
NM_002222.5(ITPR1):c.*1169_*1170insAAA rs752544427
NM_002222.5(ITPR1):c.*1183_*1184dupAA rs3079679
NM_002222.5(ITPR1):c.*1184_*1185insAACAAA rs1553771554
NM_002222.5(ITPR1):c.*1184delA rs3079679
NM_002222.5(ITPR1):c.*1185C>A rs867347513
NM_002222.5(ITPR1):c.*1266G>A rs886058655
NM_002222.5(ITPR1):c.*1347G>T rs547675218
NM_002222.5(ITPR1):c.*13A>T rs886058644
NM_002222.5(ITPR1):c.*1481delG rs886058656
NM_002222.5(ITPR1):c.*1531G>A rs9817206
NM_002222.5(ITPR1):c.*1611G>A rs565800630
NM_002222.5(ITPR1):c.*279A>G rs886058645
NM_002222.5(ITPR1):c.*312G>A rs886058646
NM_002222.5(ITPR1):c.*539_*540dupAT rs886058648
NM_002222.5(ITPR1):c.*549G>T rs781519977
NM_002222.5(ITPR1):c.*668T>C rs886058649
NM_002222.5(ITPR1):c.*740T>C rs886058650
NM_002222.5(ITPR1):c.-103C>T rs750565307
NM_002222.5(ITPR1):c.-143C>A rs886058524
NM_002222.5(ITPR1):c.-158C>G rs886058523
NM_002222.5(ITPR1):c.-2A>G rs369723935
NM_002222.5(ITPR1):c.-342C>T rs886058522
NM_002222.5(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.5(ITPR1):c.1452C>T (p.Phe484=) rs778521012
NM_002222.5(ITPR1):c.1509+6T>G rs371214686
NM_002222.5(ITPR1):c.1578C>T (p.Leu526=) rs886058612
NM_002222.5(ITPR1):c.1626C>T (p.Tyr542=) rs886058613
NM_002222.5(ITPR1):c.1654T>C (p.Tyr552His) rs1553681758
NM_002222.5(ITPR1):c.1669-12C>T rs765853714
NM_002222.5(ITPR1):c.1787C>A (p.Thr596Asn) rs1553682680
NM_002222.5(ITPR1):c.1962-3T>C rs200335594
NM_002222.5(ITPR1):c.1962-7T>G rs764512335
NM_002222.5(ITPR1):c.2129A>C (p.Lys710Thr) rs797045632
NM_002222.5(ITPR1):c.2159+14G>A rs529693973
NM_002222.5(ITPR1):c.2410G>T (p.Asp804Tyr) rs200199463
NM_002222.5(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_002222.5(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_002222.5(ITPR1):c.2808C>T (p.Ala936=) rs764301997
NM_002222.5(ITPR1):c.2868C>G (p.Thr956=) rs886058614
NM_002222.5(ITPR1):c.2994C>G (p.Ser998=) rs541386070
NM_002222.5(ITPR1):c.3123C>T (p.His1041=) rs745351516
NM_002222.5(ITPR1):c.3156C>T (p.His1052=) rs766131451
NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) rs199698357
NM_002222.5(ITPR1):c.3483G>A (p.Val1161=) rs764767201
NM_002222.5(ITPR1):c.3576G>A (p.Arg1192=) rs540908870
NM_002222.5(ITPR1):c.3587C>T (p.Ala1196Val) rs773701050
NM_002222.5(ITPR1):c.3633C>G (p.Ala1211=) rs34635052
NM_002222.5(ITPR1):c.366+15C>T rs145989158
NM_002222.5(ITPR1):c.3979G>A (p.Val1327Ile) rs1553697090
NM_002222.5(ITPR1):c.4011C>A (p.Phe1337Leu) rs763239856
NM_002222.5(ITPR1):c.4597G>T (p.Ala1533Ser) rs886058615
NM_002222.5(ITPR1):c.474G>A (p.Gly158=) rs886058578
NM_002222.5(ITPR1):c.4854C>T (p.Pro1618=) rs886058616
NM_002222.5(ITPR1):c.4983A>C (p.Leu1661=) rs886058618
NM_002222.5(ITPR1):c.5076C>T (p.Asn1692=) rs61757111
NM_002222.5(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_002222.5(ITPR1):c.5093G>A (p.Arg1698Gln) rs2291864
NM_002222.5(ITPR1):c.5155G>A (p.Gly1719Arg) rs886058619
NM_002222.5(ITPR1):c.5214C>T (p.Ala1738=) rs765524918
NM_002222.5(ITPR1):c.5298C>T (p.Phe1766=) rs774018521
NM_002222.5(ITPR1):c.5340C>G (p.Gly1780=) rs776891199
NM_002222.5(ITPR1):c.5577T>C (p.Asp1859=) rs201311531
NM_002222.5(ITPR1):c.5946G>A (p.Leu1982=) rs754434409
NM_002222.5(ITPR1):c.5991+11T>A rs772860677
NM_002222.5(ITPR1):c.6350G>A (p.Ser2117Asn) rs886058620
NM_002222.5(ITPR1):c.6619+8C>G rs2270749
NM_002222.5(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_002222.5(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002222.5(ITPR1):c.7200C>T (p.Phe2400=) rs200487406
NM_002222.5(ITPR1):c.731A>C (p.His244Pro) rs1085308010
NM_002222.5(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_002222.5(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_002222.5(ITPR1):c.7373-11C>T rs368532017
NM_002222.5(ITPR1):c.7459G>A (p.Gly2487Arg) rs1553757628
NM_002222.5(ITPR1):c.7488T>C (p.Asp2496=) rs886058626
NM_002222.5(ITPR1):c.7776G>A (p.Leu2592=) rs775463557
NM_002222.5(ITPR1):c.799A>G (p.Thr267Ala) rs1553666615
NM_002222.5(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_002222.5(ITPR1):c.8059A>G (p.Met2687Val) rs201934670
NM_002222.5(ITPR1):c.819A>G (p.Thr273=) rs886058580
NM_002222.5(ITPR1):c.829A>G (p.Ser277Gly)

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