List of variants in gene CIC studied for autosomal dominant non-syndromic intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 103

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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	0.00333
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)	rs547565552	0.00316
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu)	rs374363627	0.00025
NM_001386298.1(CIC):c.572G>A (p.Gly191Asp)	rs564911507	0.00011
NM_001386298.1(CIC):c.6292G>A (p.Val2098Met)	rs202242046	0.00011
NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser)	rs970794792	0.00007
NM_001386298.1(CIC):c.2494G>A (p.Gly832Ser)	rs1290889234	0.00004
NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr)	rs148703020	0.00003
NM_001386298.1(CIC):c.2468A>G (p.Lys823Arg)	rs775387226	0.00002
NM_001386298.1(CIC):c.281A>G (p.Lys94Arg)	rs539540626	0.00002
NM_001386298.1(CIC):c.425G>A (p.Arg142Gln)	rs1201027582	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.1829G>A (p.Arg610His)	rs2036863074	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.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.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)
NM_001386298.1(CIC):c.1100dup (p.Pro368fs)	rs2147014804
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)
NM_001386298.1(CIC):c.1216C>T (p.Pro406Ser)
NM_001386298.1(CIC):c.1315G>A (p.Glu439Lys)
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)	rs2147018633
NM_001386298.1(CIC):c.1631del (p.Gly544fs)
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.206G>A (p.Arg69Gln)
NM_001386298.1(CIC):c.226C>A (p.Pro76Thr)
NM_001386298.1(CIC):c.2329C>T (p.Arg777Cys)
NM_001386298.1(CIC):c.2878C>T (p.Pro960Ser)
NM_001386298.1(CIC):c.3025G>A (p.Ala1009Thr)
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.3059dup (p.His1021fs)
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.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)
NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter)	rs1135401823
NM_001386298.1(CIC):c.3812G>C (p.Ser1271Thr)
NM_001386298.1(CIC):c.3928T>C (p.Phe1310Leu)
NM_001386298.1(CIC):c.3974C>T (p.Pro1325Leu)	rs2037898729
NM_001386298.1(CIC):c.3992G>A (p.Arg1331Gln)
NM_001386298.1(CIC):c.4201C>T (p.Arg1401Trp)	rs373584239
NM_001386298.1(CIC):c.4273G>A (p.Gly1425Arg)
NM_001386298.1(CIC):c.4277C>G (p.Pro1426Arg)	rs1227518171
NM_001386298.1(CIC):c.4419G>T (p.Gln1473His)	rs1599911754
NM_001386298.1(CIC):c.4462G>A (p.Gly1488Arg)
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.4665_4666del (p.Arg1555fs)
NM_001386298.1(CIC):c.4673C>T (p.Ser1558Phe)
NM_001386298.1(CIC):c.4674CGCCCC[3] (p.Pro1562_Ser1563insAlaPro)
NM_001386298.1(CIC):c.4724G>A (p.Arg1575His)
NM_001386298.1(CIC):c.4726C>A (p.Pro1576Thr)
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.5299C>T (p.Pro1767Ser)
NM_001386298.1(CIC):c.5318T>G (p.Phe1773Cys)
NM_001386298.1(CIC):c.5323C>T (p.Leu1775Phe)
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
NM_001386298.1(CIC):c.5528G>T (p.Arg1843Leu)	rs141269383
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)	rs1135401825
NM_001386298.1(CIC):c.594C>T (p.Asp198=)	rs1599847765
NM_001386298.1(CIC):c.6074dup (p.Ser2026fs)
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.632G>A (p.Arg211His)
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)
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.7095C>G (p.Asp2365Glu)
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)
NM_001386298.1(CIC):c.7430C>T (p.Thr2477Met)	rs920388530
NM_001386298.1(CIC):c.7469C>T (p.Ser2490Leu)
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)	rs1422380205
NM_001386298.1(CIC):c.7517dup (p.Pro2507fs)
NM_001386298.1(CIC):c.793G>A (p.Val265Met)
NM_001386298.1(CIC):c.92G>A (p.Arg31Gln)	rs1047691694
NM_015125.5(CIC):c.3617del (p.Gln1206fs)	rs2147320674

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