ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.11600773_12249902del649130
NC_000023.10:g.11633731_11797224del163494
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter) rs2151660977
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter) rs2151652750
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys) rs1595460164
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu) rs2147495667
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter) rs1259041590
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter) rs2153082059
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs) rs2129224282
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs) rs2141185978
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs) rs2151733047
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) rs2137307992
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter) rs2151940462
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter) rs1555906768
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs) rs1555906781
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) rs1555907620
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) rs1555907623
NM_078629.4(MSL3):c.1381+1G>T rs1555907626
NM_078629.4(MSL3):c.1436dup (p.Leu480fs) rs1555907653
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs) rs1555907864
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) rs1555906707
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_198880.3(QRICH1):c.914dup (p.Gly306fs) rs2106905056
inv(X)(p22.2q28)

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