ClinVar Miner

List of variants in gene CUX2 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015267.4(CUX2):c.4108G>A (p.Gly1370Arg) rs143575822 0.00124
NM_015267.4(CUX2):c.1267C>G (p.Pro423Ala) rs1381221552 0.00001
NM_015267.4(CUX2):c.1603C>T (p.Pro535Ser) rs1365473132 0.00001
NM_015267.4(CUX2):c.1795C>A (p.Arg599Ser) rs200707164 0.00001
NM_015267.4(CUX2):c.1922G>A (p.Arg641His) rs371998616 0.00001
NM_015267.4(CUX2):c.3702T>G (p.Asp1234Glu) rs1353211680 0.00001
NM_015267.4(CUX2):c.4297C>T (p.Pro1433Ser) rs761281334 0.00001
NM_015267.4(CUX2):c.1006G>A (p.Ala336Thr)
NM_015267.4(CUX2):c.1287C>G (p.Ile429Met)
NM_015267.4(CUX2):c.137T>C (p.Ile46Thr) rs371927310
NM_015267.4(CUX2):c.1481C>T (p.Pro494Leu) rs2136373221
NM_015267.4(CUX2):c.1571C>T (p.Ala524Val)
NM_015267.4(CUX2):c.167T>C (p.Val56Ala)
NM_015267.4(CUX2):c.1816_1822del (p.Lys606fs)
NM_015267.4(CUX2):c.1901-9C>A
NM_015267.4(CUX2):c.1913C>T (p.Pro638Leu)
NM_015267.4(CUX2):c.1945G>A (p.Asp649Asn)
NM_015267.4(CUX2):c.2101C>A (p.Arg701Ser)
NM_015267.4(CUX2):c.2192C>A (p.Pro731Gln)
NM_015267.4(CUX2):c.220G>A (p.Glu74Lys)
NM_015267.4(CUX2):c.223-1G>A
NM_015267.4(CUX2):c.2408T>A (p.Val803Glu)
NM_015267.4(CUX2):c.2482G>C (p.Asp828His) rs1887467909
NM_015267.4(CUX2):c.2501C>G (p.Pro834Arg)
NM_015267.4(CUX2):c.2502dup (p.Glu835fs) rs1565917672
NM_015267.4(CUX2):c.2531A>G (p.Asp844Gly)
NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)
NM_015267.4(CUX2):c.3008G>A (p.Ser1003Asn)
NM_015267.4(CUX2):c.3133C>T (p.Pro1045Ser) rs759732385
NM_015267.4(CUX2):c.3196+10G>A
NM_015267.4(CUX2):c.3341A>C (p.His1114Pro)
NM_015267.4(CUX2):c.3556G>T (p.Ala1186Ser)
NM_015267.4(CUX2):c.358A>C (p.Ser120Arg)
NM_015267.4(CUX2):c.3728G>A (p.Gly1243Asp)
NM_015267.4(CUX2):c.4009G>A (p.Gly1337Ser)
NM_015267.4(CUX2):c.4124C>T (p.Pro1375Leu)
NM_015267.4(CUX2):c.4141A>C (p.Lys1381Gln)
NM_015267.4(CUX2):c.4291A>G (p.Lys1431Glu)
NM_015267.4(CUX2):c.561-4G>A
NM_015267.4(CUX2):c.646G>T (p.Ala216Ser)
NM_015267.4(CUX2):c.79G>T (p.Val27Phe) rs200420920
NM_015267.4(CUX2):c.935G>A (p.Arg312Gln)

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.