ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 45

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Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_001386298.1(CIC):c.3933A>G (p.Ala1311=) rs112950169 0.00325
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser) rs547565552 0.00316
NM_001386298.1(CIC):c.206G>A (p.Arg69Gln) rs188464728 0.00262
NM_001386298.1(CIC):c.281A>G (p.Lys94Arg) rs539540626 0.00040
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu) rs374363627 0.00025
NM_001386298.1(CIC):c.5299C>T (p.Pro1767Ser) rs139895527 0.00024
NM_001386298.1(CIC):c.572G>A (p.Gly191Asp) rs564911507 0.00012
NM_001386298.1(CIC):c.6292G>A (p.Val2098Met) rs202242046 0.00011
NM_001386298.1(CIC):c.6313G>A (p.Ala2105Thr) rs199898619 0.00008
NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser) rs970794792 0.00007
NM_001386298.1(CIC):c.4673C>T (p.Ser1558Phe) rs758817184 0.00006
NM_001386298.1(CIC):c.6164C>T (p.Pro2055Leu) rs145102151 0.00005
NM_001386298.1(CIC):c.7095C>G (p.Asp2365Glu) rs146337288 0.00005
NM_001386298.1(CIC):c.793G>A (p.Val265Met) rs1449982993 0.00005
NM_001386298.1(CIC):c.2494G>A (p.Gly832Ser) rs1290889234 0.00004
NM_001386298.1(CIC):c.3992G>A (p.Arg1331Gln) rs779676461 0.00004
NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu) rs587778197 0.00003
NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr) rs148703020 0.00003
NM_001386298.1(CIC):c.7387G>A (p.Ala2463Thr) rs762480443 0.00003
NM_001386298.1(CIC):c.7469C>T (p.Ser2490Leu) rs530430600 0.00003
NM_001386298.1(CIC):c.2329C>T (p.Arg777Cys) rs996916154 0.00002
NM_001386298.1(CIC):c.2468A>G (p.Lys823Arg) rs775387226 0.00002
NM_001386298.1(CIC):c.425G>A (p.Arg142Gln) rs1201027582 0.00002
NM_001386298.1(CIC):c.4273G>A (p.Gly1425Arg) rs777753069 0.00002
NM_001386298.1(CIC):c.5302A>G (p.Thr1768Ala) rs779776509 0.00002
NM_001386298.1(CIC):c.1324T>G (p.Ser442Ala) rs2036846589 0.00001
NM_001386298.1(CIC):c.1358G>A (p.Arg453His) rs957357580 0.00001
NM_001386298.1(CIC):c.1691C>T (p.Thr564Met) rs1344969760 0.00001
NM_001386298.1(CIC):c.1829G>A (p.Arg610His) rs2036863074 0.00001
NM_001386298.1(CIC):c.226C>A (p.Pro76Thr) rs1282025666 0.00001
NM_001386298.1(CIC):c.3928T>C (p.Phe1310Leu) rs752892028 0.00001
NM_001386298.1(CIC):c.4724G>A (p.Arg1575His) rs199751904 0.00001
NM_001386298.1(CIC):c.4726C>A (p.Pro1576Thr) rs778219736 0.00001
NM_001386298.1(CIC):c.5030C>T (p.Pro1677Leu) rs774119037 0.00001
NM_001386298.1(CIC):c.5282C>T (p.Ala1761Val) rs751712390 0.00001
NM_001386298.1(CIC):c.5323C>T (p.Leu1775Phe) rs921993639 0.00001
NM_001386298.1(CIC):c.5455C>T (p.Pro1819Ser) rs778737030 0.00001
NM_001386298.1(CIC):c.5708A>G (p.Gln1903Arg) rs906467634 0.00001
NM_001386298.1(CIC):c.5884G>A (p.Val1962Met) rs773634795 0.00001
NM_001386298.1(CIC):c.632G>A (p.Arg211His) rs2513595825 0.00001
NM_001386298.1(CIC):c.6920C>T (p.Thr2307Met) rs1472569077 0.00001
NM_001386298.1(CIC):c.6925C>T (p.Leu2309=) rs772813226 0.00001
NM_001386298.1(CIC):c.844C>T (p.Arg282Trp) rs1191474182 0.00001
NM_001386298.1(CIC):c.968G>A (p.Arg323His) rs886934809 0.00001
NM_001386298.1(CIC):c.998G>A (p.Arg333His) rs1283116229 0.00001
NC_000019.9:g.(?_42785739)_(42791254_?)del
NM_001386298.1(CIC):c.1026dup (p.Trp343fs) rs2513599364
NM_001386298.1(CIC):c.1027del (p.Trp343fs) rs2513599588
NM_001386298.1(CIC):c.1100dup (p.Pro368fs) rs2147014804
NM_001386298.1(CIC):c.111_112del (p.Asp38fs) rs2513590118
NM_001386298.1(CIC):c.1216C>T (p.Pro406Ser) rs1599849219
NM_001386298.1(CIC):c.1315G>A (p.Glu439Lys) rs2036846235
NM_001386298.1(CIC):c.1495G>A (p.Gly499Ser) rs2513604960
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter) rs2147018633
NM_001386298.1(CIC):c.1631del (p.Gly544fs) rs2513605675
NM_001386298.1(CIC):c.1736C>G (p.Ser579Ter) rs2147020089
NM_001386298.1(CIC):c.1785C>A (p.Asp595Glu) rs975540618
NM_001386298.1(CIC):c.2322_2323del (p.Arg775fs) rs1568487734
NM_001386298.1(CIC):c.2326T>A (p.Ser776Thr)
NM_001386298.1(CIC):c.2363del (p.Pro788fs) rs2513612309
NM_001386298.1(CIC):c.2653G>A (p.Ala885Thr)
NM_001386298.1(CIC):c.2680_2692del (p.Gln894fs)
NM_001386298.1(CIC):c.2795-3C>A
NM_001386298.1(CIC):c.2878C>T (p.Pro960Ser) rs756596852
NM_001386298.1(CIC):c.2935C>T (p.Gln979Ter) rs2513800857
NM_001386298.1(CIC):c.3025G>A (p.Ala1009Thr) rs1445017300
NM_001386298.1(CIC):c.3031T>C (p.Cys1011Arg) rs2037707528
NM_001386298.1(CIC):c.3044C>T (p.Pro1015Leu) rs2147179752
NM_001386298.1(CIC):c.3163_3164del (p.Glu1054_Ser1055insTer) rs1599892470
NM_001386298.1(CIC):c.3179+1G>T rs2147185256
NM_001386298.1(CIC):c.3180-10C>G rs28469564
NM_001386298.1(CIC):c.3295C>T (p.Arg1099Cys) rs767502801
NM_001386298.1(CIC):c.3350T>C (p.Met1117Thr)
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp) rs1568504941
NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter) rs1282986679
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser) rs2037753806
NM_001386298.1(CIC):c.3410G>A (p.Arg1137Gln) rs2147198843
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro) rs2513839203
NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter) rs1135401823
NM_001386298.1(CIC):c.3812G>C (p.Ser1271Thr) rs2513879594
NM_001386298.1(CIC):c.3826G>C (p.Glu1276Gln)
NM_001386298.1(CIC):c.3974C>T (p.Pro1325Leu) rs2037898729
NM_001386298.1(CIC):c.4201C>T (p.Arg1401Trp) rs373584239
NM_001386298.1(CIC):c.4277C>G (p.Pro1426Arg) rs1227518171
NM_001386298.1(CIC):c.4326CTC[1] (p.Ser1444del)
NM_001386298.1(CIC):c.4419G>T (p.Gln1473His) rs1599911754
NM_001386298.1(CIC):c.4460C>T (p.Ala1487Val)
NM_001386298.1(CIC):c.4462G>A (p.Gly1488Arg) rs2038007181
NM_001386298.1(CIC):c.446G>T (p.Gly149Val)
NM_001386298.1(CIC):c.4528_4535dup (p.Glu1513fs) rs1135401824
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter) rs747706524
NM_001386298.1(CIC):c.4612C>T (p.Gln1538Ter) rs2038020420
NM_001386298.1(CIC):c.4652G>T (p.Gly1551Val) rs2038023932
NM_001386298.1(CIC):c.4665_4666del (p.Arg1555fs) rs2513942219
NM_001386298.1(CIC):c.4674CGCCCC[3] (p.Pro1562_Ser1563insAlaPro) rs1265581254
NM_001386298.1(CIC):c.4869del (p.Ser1624fs) rs2513951852
NM_001386298.1(CIC):c.4946C>T (p.Pro1649Leu) rs2038053328
NM_001386298.1(CIC):c.5141del (p.Pro1714fs) rs2038071036
NM_001386298.1(CIC):c.5298_5313del (p.Pro1767fs) rs1555769968
NM_001386298.1(CIC):c.5314C>G (p.Arg1772Gly)
NM_001386298.1(CIC):c.5318T>G (p.Phe1773Cys) rs2513969652
NM_001386298.1(CIC):c.5424del (p.Ala1809fs) rs2513973253
NM_001386298.1(CIC):c.5449G>T (p.Ala1817Ser) rs2038108859
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu) rs2147280018
NM_001386298.1(CIC):c.5528G>T (p.Arg1843Leu) rs141269383
NM_001386298.1(CIC):c.5531G>C (p.Gly1844Ala)
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) rs1135401825
NM_001386298.1(CIC):c.5903-1G>A
NM_001386298.1(CIC):c.594C>T (p.Asp198=) rs1599847765
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter) rs2147310210
NM_001386298.1(CIC):c.6074dup (p.Ser2026fs) rs761345552
NM_001386298.1(CIC):c.6166_6167del (p.Ala2056fs) rs2147313207
NM_001386298.1(CIC):c.6173C>G (p.Thr2058Ser) rs2038239333
NM_001386298.1(CIC):c.6188G>C (p.Ser2063Thr) rs2038240262
NM_001386298.1(CIC):c.6344del (p.Gln2115fs) rs2147320674
NM_001386298.1(CIC):c.6345G>T (p.Gln2115His)
NM_001386298.1(CIC):c.638_640del (p.Asp213del)
NM_001386298.1(CIC):c.6401G>A (p.Gly2134Glu) rs2038269827
NM_001386298.1(CIC):c.6422C>T (p.Pro2141Leu) rs2147322875
NM_001386298.1(CIC):c.6484G>T (p.Ala2162Ser) rs910167566
NM_001386298.1(CIC):c.6548C>T (p.Ser2183Leu)
NM_001386298.1(CIC):c.6747G>A (p.Lys2249=) rs2038327689
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter) rs752780532
NM_001386298.1(CIC):c.6992C>T (p.Ser2331Leu) rs2147344248
NM_001386298.1(CIC):c.7195A>G (p.Thr2399Ala) rs2147353869
NM_001386298.1(CIC):c.7363G>T (p.Ala2455Ser) rs1351480082
NM_001386298.1(CIC):c.7407C>G (p.Thr2469=) rs2038417716
NM_001386298.1(CIC):c.7416C>G (p.Ser2472Arg) rs964526485
NM_001386298.1(CIC):c.7430C>T (p.Thr2477Met) rs920388530
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) rs1422380205
NM_001386298.1(CIC):c.7509dup (p.Ser2504fs)
NM_001386298.1(CIC):c.7517dup (p.Pro2507fs) rs1158987717
NM_001386298.1(CIC):c.877C>T (p.Pro293Ser)
NM_001386298.1(CIC):c.92G>A (p.Arg31Gln) rs1047691694
NM_001386298.1(CIC):c.94C>T (p.Arg32Ter) rs2513589983

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