ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile) rs370701686 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.1554+6T>G rs371214686 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.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.5228C>T (p.Ala1743Val) rs747201343 0.00003
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln) rs375223667 0.00003
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.2225C>T (p.Ala742Val) rs779996062 0.00001
NM_001378452.1(ITPR1):c.2780-8T>C rs558804336 0.00001
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met) rs776228202 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.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.5789C>A (p.Ala1930Asp) rs535969136 0.00001
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val) rs769041115 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.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.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.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.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.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.8239C>T (p.Pro2747Ser)
NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)

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