ClinVar Miner

List of variants reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Laboratoire de Génétique Moléculaire, CHU Bordeaux

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_001080517.3(SETD5):c.1626del (p.Asp542fs)
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001272071.2(AP1S2):c.288+1G>A
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)
NM_003482.4(KMT2D):c.16084_16085del (p.Lys5362fs)
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)
NM_006306.4(SMC1A):c.2973+1G>A
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_078480.3(PUF60):c.852_853del (p.Ser285fs)
NM_138425.4(C12orf57):c.55dup (p.Val19fs)
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644

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.