ClinVar Miner

List of variants in gene CLTC reported as uncertain significance 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: 21
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HGVS dbSNP gnomAD frequency
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
NM_004859.4(CLTC):c.1013T>C (p.Ile338Thr) rs2143540713
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.2282A>G (p.Asn761Ser) rs771059610
NM_004859.4(CLTC):c.2517A>G (p.Gln839=) rs2143575574
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2909T>C (p.Leu970Pro)
NM_004859.4(CLTC):c.3137G>A (p.Arg1046His) rs1376342815
NM_004859.4(CLTC):c.3266T>C (p.Ile1089Thr) rs199715555
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) rs1443421262
NM_004859.4(CLTC):c.3779G>A (p.Cys1260Tyr)
NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys)

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