ClinVar Miner

List of variants in gene CP reported as pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.1209-2A>G rs386134137 0.00001
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) rs369900671 0.00001
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.395-1G>A rs386134135 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NC_000003.11:g.(?_148939414)_(148939579_?)del
NC_000003.12:g.(?_149206148)_(149206359_?)del
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.4(CP):c.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1106del (p.Lys369fs)
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) rs772867888
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
NM_000096.4(CP):c.1317_1318del (p.Gly440fs) rs1727369694
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1492C>T (p.Gln498Ter)
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs) rs1576759850
NM_000096.4(CP):c.1731del (p.Glu577fs) rs2108244261
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
NM_000096.4(CP):c.1864+5G>A rs768510247
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1865-291_2077+352del rs1553759338
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2078-74_2241del rs1553759167
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) rs2108230432
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2670C>A (p.Tyr890Ter)
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2879-2A>G rs1406530488
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.313del (p.Val105fs)
NM_000096.4(CP):c.376_379del (p.Tyr126fs) rs2108301637
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.607+1del rs753254095
NM_000096.4(CP):c.631A>T (p.Lys211Ter)
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126

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