ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.2438dup (p.Asn814fs)
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001429.4(EP300):c.108_111del (p.Phe37fs)
NM_001429.4(EP300):c.6323del (p.Gln2108fs)
NM_003403.5(YY1):c.1036G>T (p.Val346Phe)
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter) rs2034471125
NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) rs2033996047
NM_013275.6(ANKRD11):c.7048_7050del (p.Gln2350del)
NM_015570.4(AUTS2):c.2218del (p.His740fs)
NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter) rs869025281
NM_030632.3(ASXL3):c.4890_4893del (p.Lys1631fs)
NM_138927.4(SON):c.3156del (p.Met1053fs)

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.