ClinVar Miner

List of variants studied for syndromic intellectual disability by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NG_009873.1:g.(?_5000)_(160068_?)del
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs) rs1556206910
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001272071.2(AP1S2):c.1-3C>A rs1060499672
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001347721.2(DYRK1A):c.1430G>A (p.Gly477Asp) rs1555991030
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) rs1057519628
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) rs1555984343
NM_001349338.3(FOXP1):c.869+1G>A rs763837297
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001374828.1(ARID1B):c.1984C>T (p.Gln662Ter) rs1060499668
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs) rs1060499661
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs) rs875989882

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