ClinVar Miner

List of variants studied 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: 69
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HGVS dbSNP gnomAD frequency
NM_017635.5(KMT5B):c.1619G>A (p.Arg540Gln) rs565603169 0.00014
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_017635.5(KMT5B):c.1538C>T (p.Ala513Val) rs377163167 0.00002
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.142C>G (p.His48Asp) rs2103276319
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
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.176G>A (p.Trp59Ter)
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.294C>G (p.Phe98Leu)
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.425C>G (p.Ala142Gly)
NM_003108.4(SOX11):c.527C>A (p.Ala176Glu)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.1016G>A (p.Arg339Gln) rs1567948287
NM_006852.6(TLK2):c.1273G>A (p.Glu425Lys) rs1567959483
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.1651C>T (p.Gln551Ter) rs1568003569
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn) rs1568006217
NM_006852.6(TLK2):c.181C>T (p.Arg61Ter) rs1567844041
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg) rs1568018905
NM_006852.6(TLK2):c.202G>T (p.Glu68Ter) rs1567844114
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.2170C>T (p.Arg724Ter) rs1568028078
NM_006852.6(TLK2):c.37C>T (p.Gln13Ter) rs1567758622
NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter) rs1567920106
NM_006852.6(TLK2):c.784C>T (p.Arg262Ter) rs1567920209
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter) rs138247472
NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) rs1555644480
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile) rs1745368018
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly) rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu) rs1747667518
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852

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