ClinVar Miner

List of variants in gene CLTC studied for Intellectual disability, autosomal dominant 56

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.2293-26T>C rs8065248 0.88553
NM_004859.4(CLTC):c.519+16T>G rs8071749 0.86137
NM_004859.4(CLTC):c.2797-9C>T rs148657971 0.00940
NM_004859.4(CLTC):c.43-17C>A rs200579713 0.00036
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val) rs143886947 0.00012
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met) rs760880148 0.00002
NM_004859.4(CLTC):c.1133C>T (p.Ser378Leu) rs771278812 0.00001
NM_004859.4(CLTC):c.118A>G (p.Ile40Val) rs747158962 0.00001
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) rs954500638 0.00001
NM_004859.4(CLTC):c.2503G>A (p.Val835Ile) rs373696281 0.00001
NM_004859.4(CLTC):c.4904-4G>A rs755404780 0.00001
NC_000017.11:g.59664787del rs1598226304
NM_004859.4(CLTC):c.1013T>C (p.Ile338Thr) rs2143540713
NM_004859.4(CLTC):c.111del (p.Phe37fs) rs2143496899
NM_004859.4(CLTC):c.1168-1G>T
NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala) rs1598223846
NM_004859.4(CLTC):c.1196G>A (p.Arg399His) rs2509378609
NM_004859.4(CLTC):c.1425A>T (p.Ala475=)
NM_004859.4(CLTC):c.1454C>T (p.Pro485Leu) rs2143548929
NM_004859.4(CLTC):c.1495C>T (p.Gln499Ter)
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu) rs2032692372
NM_004859.4(CLTC):c.1647_1653del
NM_004859.4(CLTC):c.1752_1755del (p.Leu585fs)
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter) rs2509384180
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs) rs2032737696
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_004859.4(CLTC):c.1898T>A (p.Leu633Ter) rs2509384283
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter) rs2509384644
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val) rs2143556646
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs) rs2032745316
NM_004859.4(CLTC):c.2282A>G (p.Asn761Ser) rs771059610
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2438del (p.Pro813fs) rs2509140612
NM_004859.4(CLTC):c.250+3A>G rs2509357386
NM_004859.4(CLTC):c.2517A>G (p.Gln839=) rs2143575574
NM_004859.4(CLTC):c.2548_2549insGCCGCCAACGCGCCATCGAGCGGTGCTGCCCAAAGGTGGTTTTTCGCCAGATTCAC (p.Glu850fs)
NM_004859.4(CLTC):c.2562-1G>C rs1185165677
NM_004859.4(CLTC):c.2562-2A>G
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr) rs2509144215
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs) rs2033035924
NM_004859.4(CLTC):c.2909T>C (p.Leu970Pro) rs2509147608
NM_004859.4(CLTC):c.3049_3050del (p.Val1017fs) rs2509150097
NM_004859.4(CLTC):c.3091A>G (p.Thr1031Ala)
NM_004859.4(CLTC):c.3137G>A (p.Arg1046His) rs1376342815
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro) rs1555607159
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter) rs2143591718
NM_004859.4(CLTC):c.3249+1G>C rs2509151066
NM_004859.4(CLTC):c.3266T>C (p.Ile1089Thr) rs199715555
NM_004859.4(CLTC):c.3339dup (p.Ala1114fs) rs2509151608
NM_004859.4(CLTC):c.3373A>G (p.Ile1125Val)
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) rs1443421262
NM_004859.4(CLTC):c.346_347del (p.Leu116fs) rs2509361365
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter) rs2143593640
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter) rs2509152675
NM_004859.4(CLTC):c.3611del (p.Arg1204fs) rs2509153423
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del) rs2509153473
NM_004859.4(CLTC):c.3765+1G>A rs2143594831
NM_004859.4(CLTC):c.3766-13_3766-5del rs2143595030
NM_004859.4(CLTC):c.3779G>A (p.Cys1260Tyr) rs2509153827
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro) rs2509153854
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs) rs2509154133
NM_004859.4(CLTC):c.3928G>A (p.Glu1310Lys)
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004859.4(CLTC):c.4681G>T (p.Glu1561Ter)
NM_004859.4(CLTC):c.4686_4687del (p.Glu1564fs) rs2509158651
NM_004859.4(CLTC):c.46C>T (p.Gln16Ter)
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter) rs367867382
NM_004859.4(CLTC):c.4790C>T (p.Pro1597Leu)
NM_004859.4(CLTC):c.4827+1G>T
NM_004859.4(CLTC):c.518A>G (p.Gln173Arg)
NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys) rs2032454669
NM_004859.4(CLTC):c.977_980del (p.Ser326fs) rs1555604778
NM_004859.4:c.[970-1G>T];[458T>C]

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