ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp) rs2103276324
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln) rs2103276330
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu) rs2103276338
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.305C>T (p.Ala102Val) rs1665661372
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_006852.6(TLK2):c.1412A>G (p.His471Arg) rs1567974030
NM_006852.6(TLK2):c.1487A>G (p.His496Arg) rs1567995650
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn) rs1568006217
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg) rs1568018905
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile) rs1745368018
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852

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