ClinVar Miner

List of variants studied for Intellectual disability by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001046.3(SLC12A2):c.3257T>C (p.Ile1086Thr) rs1206093526 0.00001
NC_000001.11:g.153812287_153823987del
NM_000834.5(GRIN2B):c.2171+3A>G rs1591612223
NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) rs1599375711
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.2357-40_*41del
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His) rs1576028676
NM_001385012.1(NBEA):c.1035T>G (p.Tyr345Ter) rs779780049
NM_001904.4(CTNNB1):c.1768dup (p.Ile590fs) rs1575333081
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018486.3(HDAC8):c.562G>A (p.Ala188Thr) rs1603069440
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) rs1603060007
NM_020706.2(SCAF4):c.790del (p.Arg264fs) rs2123557653

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