ClinVar Miner

List of variants reported as 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: 35
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NC_000012.12:g.116022564_116022565delinsAT rs1555250044
NM_001145358.2(SIN3A):c.2192_2198del (p.His731fs)
NM_001172509.2(SATB2):c.235_239delinsC (p.Glu79fs)
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001282531.3(ADNP):c.2167del (p.Glu723fs) rs2122746230
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs) rs2122742586
NM_001356.5(DDX3X):c.1171-1G>C rs1602134459
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro) rs796052235
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001367721.1(CASK):c.291del (p.Asp98fs)
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter) rs1559474364
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter) rs1559474966
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer) rs2078141730
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs) rs1567309482
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_013275.6(ANKRD11):c.1558del (p.Ala520fs) rs2151763801
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs) rs2034516672
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) rs1553961585
NM_014795.4(ZEB2):c.2303del (p.Asn768fs) rs1703267358
NM_014927.5(CNKSR2):c.573_576del (p.Ser192fs)
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.1913del (p.Pro638fs) rs2129558877
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter) rs1553187446
NM_020699.4(GATAD2B):c.185del (p.Glu62fs) rs1570938014
NM_030665.4(RAI1):c.3251_3252del (p.Leu1084fs)
NM_030665.4(RAI1):c.4271del (p.Phe1424fs) rs2143002950

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