ClinVar Miner

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

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.2293-26T>C rs8065248 0.88365
NM_004859.4(CLTC):c.519+16T>G rs8071749 0.85772
NM_004859.4(CLTC):c.2797-9C>T rs148657971 0.00940
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val) rs143886947 0.00013
NM_004859.4(CLTC):c.1133C>T (p.Ser378Leu) rs771278812 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.1180A>G (p.Thr394Ala) rs1598223846
NM_004859.4(CLTC):c.118A>G (p.Ile40Val)
NM_004859.4(CLTC):c.1196G>A (p.Arg399His)
NM_004859.4(CLTC):c.1454C>T (p.Pro485Leu)
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu) rs2032692372
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
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)
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val) rs2143556646
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
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)
NM_004859.4(CLTC):c.2517A>G (p.Gln839=) rs2143575574
NM_004859.4(CLTC):c.2562-1G>C
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)
NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer) rs2143580660
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
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)
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
NM_004859.4(CLTC):c.3266T>C (p.Ile1089Thr) rs199715555
NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) rs1443421262
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter) rs2143593640
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)
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)
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter) rs367867382
NM_004859.4(CLTC):c.681+2dup rs1598214612
NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys)
NM_004859.4(CLTC):c.977_980del (p.Ser326fs) rs1555604778

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