ClinVar Miner

List of variants in gene ITPR1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001378452.1(ITPR1):c.2334C>T (p.Leu778=) rs36103112 0.00328
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001378452.1(ITPR1):c.1886+7C>T rs181465598 0.00207
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00201
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001378452.1(ITPR1):c.5889C>T (p.Asp1963=) rs377489220 0.00140
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=) rs192247062 0.00082
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=) rs368425885 0.00054
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_001378452.1(ITPR1):c.526-8C>T rs369328275 0.00039
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=) rs202123078 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=) rs375697840 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=) rs144178989 0.00025
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.4164C>T (p.Val1388=) rs375770679 0.00019
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.4843-7G>A rs184969640 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=) rs187516662 0.00015
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=) rs375227391 0.00011
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=) rs549363319 0.00008
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=) rs376805768 0.00007
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile) rs370701686 0.00006
NM_001378452.1(ITPR1):c.3565-4C>T rs374122245 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=) rs182891619 0.00006
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=) rs780138157 0.00006
NM_001378452.1(ITPR1):c.8010C>T (p.Tyr2670=) rs372433483 0.00006
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 0.00004
NM_001378452.1(ITPR1):c.1554+6T>G rs371214686 0.00004
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.3564+5G>T rs371420259 0.00004
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=) rs542486327 0.00004
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser) rs199890939 0.00004
NM_001378452.1(ITPR1):c.7528G>A (p.Gly2510Arg) rs868822649 0.00004
NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met) rs201693219 0.00004
NM_001378452.1(ITPR1):c.1833C>T (p.Thr611=) rs546056087 0.00003
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=) rs562572079 0.00003
NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val) rs747201343 0.00003
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln) rs375223667 0.00003
NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=) rs369778265 0.00003
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=) rs375679048 0.00002
NM_001378452.1(ITPR1):c.6300C>G (p.Ala2100=) rs974085034 0.00002
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile) rs774735244 0.00002
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001378452.1(ITPR1):c.1240G>A (p.Val414Met) rs1462970629 0.00001
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378452.1(ITPR1):c.1719T>C (p.Tyr573=) rs752379221 0.00001
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val) rs779996062 0.00001
NM_001378452.1(ITPR1):c.2780-8T>C rs558804336 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met) rs776228202 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe) rs1278034455 0.00001
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile) rs187604016 0.00001
NM_001378452.1(ITPR1):c.4251C>T (p.Arg1417=) rs375223250 0.00001
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=) rs192863290 0.00001
NM_001378452.1(ITPR1):c.4483A>G (p.Ile1495Val) rs769648295 0.00001
NM_001378452.1(ITPR1):c.4640G>A (p.Arg1547Gln) rs1250105592 0.00001
NM_001378452.1(ITPR1):c.5266G>A (p.Val1756Ile) rs763787819 0.00001
NM_001378452.1(ITPR1):c.5301C>A (p.Ser1767Arg) rs758372914 0.00001
NM_001378452.1(ITPR1):c.5760C>T (p.Val1920=) rs773926755 0.00001
NM_001378452.1(ITPR1):c.5789C>A (p.Ala1930Asp) rs535969136 0.00001
NM_001378452.1(ITPR1):c.5835C>T (p.Asp1945=) rs201949292 0.00001
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val) rs769041115 0.00001
NM_001378452.1(ITPR1):c.6069T>C (p.Thr2023=) rs374602663 0.00001
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=) rs149339933 0.00001
NM_001378452.1(ITPR1):c.6808+4G>A rs746724784 0.00001
NM_001378452.1(ITPR1):c.7180A>G (p.Met2394Val) rs905034632 0.00001
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln) rs760588490 0.00001
NM_001378452.1(ITPR1):c.*7G>T
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
NM_001378452.1(ITPR1):c.1744del (p.Gln582fs) rs2125201760
NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)
NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)
NM_001378452.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001378452.1(ITPR1):c.1886+7C>G
NM_001378452.1(ITPR1):c.188T>C (p.Met63Thr) rs370953766
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn) rs373694009
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr) rs797045632
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly) rs997975841
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val) rs750473506
NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)
NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His) rs771308450
NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp) rs752791333
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)
NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe) rs532037891
NM_001378452.1(ITPR1):c.366+6T>A rs1559591437
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3872T>G (p.Phe1291Cys) rs1574879586
NM_001378452.1(ITPR1):c.4157A>T (p.His1386Leu) rs1172066127
NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)
NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe) rs566552796
NM_001378452.1(ITPR1):c.4437T>C (p.His1479=) rs758498603
NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)
NM_001378452.1(ITPR1):c.458A>G (p.Glu153Gly) rs1414031340
NM_001378452.1(ITPR1):c.4606C>T (p.Pro1536Ser)
NM_001378452.1(ITPR1):c.4633T>A (p.Cys1545Ser) rs1559731146
NM_001378452.1(ITPR1):c.4696A>G (p.Ser1566Gly) rs2125272782
NM_001378452.1(ITPR1):c.4759C>T (p.Arg1587Trp)
NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)
NM_001378452.1(ITPR1):c.5104-5T>G rs775238471
NM_001378452.1(ITPR1):c.5113A>G (p.Ile1705Val)
NM_001378452.1(ITPR1):c.5143C>T (p.Pro1715Ser)
NM_001378452.1(ITPR1):c.515T>C (p.Ile172Thr)
NM_001378452.1(ITPR1):c.5194C>A (p.Leu1732Met) rs370179124
NM_001378452.1(ITPR1):c.5267T>C (p.Val1756Ala)
NM_001378452.1(ITPR1):c.5354-10A>G
NM_001378452.1(ITPR1):c.5407G>A (p.Val1803Ile) rs1575064573
NM_001378452.1(ITPR1):c.5572G>A (p.Asp1858Asn)
NM_001378452.1(ITPR1):c.5673A>G (p.Gly1891=) rs1553735513
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
NM_001378452.1(ITPR1):c.5770C>T (p.Leu1924Phe) rs2125376319
NM_001378452.1(ITPR1):c.5780C>T (p.Ala1927Val)
NM_001378452.1(ITPR1):c.5836G>A (p.Asp1946Asn)
NM_001378452.1(ITPR1):c.5840A>C (p.His1947Pro) rs763857989
NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)
NM_001378452.1(ITPR1):c.5874C>A (p.Ala1958=)
NM_001378452.1(ITPR1):c.5890G>A (p.Asp1964Asn)
NM_001378452.1(ITPR1):c.5910C>T (p.Val1970=) rs753430331
NM_001378452.1(ITPR1):c.6111= (p.Asn2037=)
NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)
NM_001378452.1(ITPR1):c.6155G>C (p.Cys2052Ser) rs1553740488
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe) rs2125389919
NM_001378452.1(ITPR1):c.6558C>T (p.Gly2186=) rs1256884190
NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=) rs2125423186
NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)
NM_001378452.1(ITPR1):c.7042A>G (p.Thr2348Ala) rs753499808
NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001378452.1(ITPR1):c.8239C>T (p.Pro2747Ser)
NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)

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