ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4967T>C (p.Leu1656Ser)
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
NM_000489.6(ATRX):c.5350A>G (p.Ile1784Val)
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_001079872.2(CUL4B):c.1444-1G>A
NM_001145358.2(SIN3A):c.1511T>A (p.Val504Asp)
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)
NM_001356.5(DDX3X):c.1547T>C (p.Phe516Ser)
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
NM_001367721.1(CASK):c.2658T>G (p.Tyr886Ter)
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs) rs2059211409
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly) rs2146867887
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) rs2141237064
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser) rs2051863859
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
NM_006950.3(SYN1):c.314del (p.Gly105fs) rs1603078587
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr) rs1703306516
NM_014991.6(WDFY3):c.9361C>T (p.Gln3121Ter)
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) rs2147130188

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