ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala) rs201467037 0.00010
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val) rs764849779 0.00006
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn) rs779974166 0.00005
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_001015877.2(PHF6):c.240+10T>C rs750243844 0.00001
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg) rs753209373 0.00001
NM_004595.5(SMS):c.872C>A (p.Thr291Lys) rs755701744 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.2982-20C>T rs773211847 0.00001
NM_006013.5(RPL10):c.236G>C (p.Ser79Thr) rs782088842 0.00001
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro) rs1165799072 0.00001
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met) rs2070142302
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu) rs2069567164
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) rs200715521
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) rs2063444025
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) rs1928413482
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) rs868697675
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) rs2050412325
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter) rs766409654
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter) rs2063876197
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp) rs2063889955
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer) rs2038515067
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) rs2092312145
NM_006950.3(SYN1):c.1982+10C>A rs752321936
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) rs2092188951
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn) rs2090566346
NM_015107.3(PHF8):c.-63C>A rs781976643
NM_015107.3(PHF8):c.2455del (p.Leu819fs) rs2065126287
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His) rs1927947896
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter) rs1927638009
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr) rs1931184202

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.