ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance for brain disorder

Included ClinVar conditions (1834):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.*1170C>A rs202059633 0.02047
NM_001378452.1(ITPR1):c.*1185C>A rs867347513 0.01135
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.*942G>T rs41308218 0.00044
NM_002222.6(ITPR1):c.*1347G>T rs547675218 0.00036
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001378452.1(ITPR1):c.*279A>G rs886058645 0.00029
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378452.1(ITPR1):c.*580T>G rs1266500433 0.00009
NM_001378452.1(ITPR1):c.*243G>A rs963189027 0.00007
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 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.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=) rs886058613 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val) rs773701050 0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=) rs765524918 0.00002
NM_001378452.1(ITPR1):c.5746A>G (p.Ile1916Val) rs1479960762 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_002222.6(ITPR1):c.*1311G>A rs772889585 0.00002
NM_001378452.1(ITPR1):c.*1061T>G rs886058652 0.00001
NM_001378452.1(ITPR1):c.*740T>C rs886058650 0.00001
NM_001378452.1(ITPR1):c.*816C>T rs775011992 0.00001
NM_001378452.1(ITPR1):c.-342C>T rs886058522 0.00001
NM_001378452.1(ITPR1):c.-63C>T rs889404498 0.00001
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=) rs760762106 0.00001
NM_001378452.1(ITPR1):c.2006+13C>A rs1181863539 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3162-9C>T rs1159582623 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3327+10G>T rs757492529 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=) rs540908870 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=) rs2094755597 0.00001
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=) rs1396361560 0.00001
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg) rs886058619 0.00001
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=) rs754434409 0.00001
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=) rs886058580 0.00001
NM_002222.6(ITPR1):c.*1481delG rs886058656 0.00001
NM_001378452.1(ITPR1):c.*1076TTCTT[1] rs886058653
NM_001378452.1(ITPR1):c.*1169_*1170insAA rs752544427
NM_001378452.1(ITPR1):c.*1169_*1170insAAA rs752544427
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1] rs1553771554
NM_001378452.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001378452.1(ITPR1):c.*1184del rs3079679
NM_001378452.1(ITPR1):c.*1266G>A rs886058655
NM_001378452.1(ITPR1):c.*13A>T rs886058644
NM_001378452.1(ITPR1):c.*312G>A rs886058646
NM_001378452.1(ITPR1):c.*472T>G rs2051804981
NM_001378452.1(ITPR1):c.*539_*540dup rs886058648
NM_001378452.1(ITPR1):c.*549G>T rs781519977
NM_001378452.1(ITPR1):c.*592T>G rs2051813316
NM_001378452.1(ITPR1):c.*668T>C rs886058649
NM_001378452.1(ITPR1):c.*879T>C rs1428879075
NM_001378452.1(ITPR1):c.*970C>A rs2051846001
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) rs779003637
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro) rs1260045423
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.1252-10T>A rs2125191741
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile) rs2093848251
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn) rs2093849179
NM_001378452.1(ITPR1):c.1412+6C>T rs2093850197
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly) rs2093921786
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys) rs961418831
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val) rs111670385
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=) rs886058614
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=) rs541386070
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser) rs1159285250
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val) rs955458642
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=) rs2094513887
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe) rs762136714
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser) rs886058615
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His) rs561526280
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=) rs2082182114
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=) rs2041390618
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=) rs774018521
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=) rs776891199
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg) rs2125373123
NM_001378452.1(ITPR1):c.5725+15G>A rs2045841537
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=) rs1157485528
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) rs2046693194
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn) rs886058620
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=) rs775463557
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=) rs2050964614
NM_002222.6(ITPR1):c.*1366C>T rs146958900
NM_002222.6(ITPR1):c.*1531G>A rs9817206

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