ClinVar Miner

List of variants studied for syndromic intellectual disability by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1504del (p.Glu502fs)
NM_001130438.3(SPTAN1):c.6043del (p.Ser2015fs)
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val) rs2141631138
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001172509.2(SATB2):c.473+1G>A
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter) rs2122743549
NM_001349338.3(FOXP1):c.494del (p.Gly165fs) rs2107113374
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001367721.1(CASK):c.2155G>A (p.Val719Met) rs12842195
NM_001376.5(DYNC1H1):c.3961-1G>A
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001904.4(CTNNB1):c.1642C>T (p.Gln548Ter)
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.1836_1837dup (p.Val613fs)
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) rs2103925559
NM_004380.3(CREBBP):c.1911del (p.Asp639fs) rs2141237372
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004523.4(KIF11):c.1145T>C (p.Ile382Thr) rs1589597598
NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)
NM_006565.4(CTCF):c.1066T>G (p.Cys356Gly)
NM_007118.4(TRIO):c.5763+1G>T
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.6427C>G (p.Leu2143Val)
NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
NM_014927.5(CNKSR2):c.187C>T (p.Gln63Ter)
NM_015100.4(POGZ):c.1264_1265del (p.Lys422fs)
NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter) rs775225727
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841
NM_031407.7(HUWE1):c.2320-19A>G
NM_138576.4(BCL11B):c.1852C>T (p.Gln618Ter)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.9330+1G>A
NM_198880.3(QRICH1):c.418del (p.Gln140fs) rs2106907255

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