ClinVar Miner

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

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) rs2076994968
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) rs2063238551
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1610del (p.Asn537fs) rs1574492395
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
NM_001347721.2(DYRK1A):c.638-6T>C rs2148612226
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001349338.3(FOXP1):c.1146+1G>A rs1559650552
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg) rs2036511353
NM_001349338.3(FOXP1):c.1653-1G>A rs1575741313
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_001371928.1(AHDC1):c.1122del (p.Pro376fs)
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
NM_001904.4(CTNNB1):c.133del (p.Ser45fs) rs2125617589
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002547.2(OPHN1):c.313_326del
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys) rs2148612232
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter) rs1597435896
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575

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