ClinVar Miner

List of variants studied for syndromic intellectual disability by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser) rs1688103993
NM_001172509.2(SATB2):c.1504del (p.Gln502fs) rs1687958384
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001349338.3(FOXP1):c.1420_1423del (p.Ile474fs) rs2037850716
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) rs2065171820
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter) rs1934657828
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe) rs200616542
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His) rs988251457
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) rs1643457017
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.3948del (p.Gly1316_Leu1317insTer) rs2034350757
NM_013275.6(ANKRD11):c.6968_6975dup (p.Ala2326fs) rs1555525115
NM_014795.4(ZEB2):c.1541_1548del (p.Pro514fs) rs1703280501
NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter) rs1703265228
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter) rs750728463

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