ClinVar Miner

List of variants studied for Adams-Oliver syndrome by Baylor Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.6128G>A (p.Arg2043Gln) rs746117967 0.00016
NM_020812.4(DOCK6):c.4216T>G (p.Ser1406Ala) rs34479977 0.00014
NM_020812.4(DOCK6):c.2506G>A (p.Val836Ile) rs200935357 0.00011
NM_020812.4(DOCK6):c.1987C>T (p.Gln663Ter) rs936266747 0.00004
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_020754.4(ARHGAP31):c.3007G>A (p.Ala1003Thr) rs761910919 0.00001
NM_020812.4(DOCK6):c.281C>T (p.Thr94Ile) rs747666106 0.00001
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile) rs1843069355
NM_017617.5(NOTCH1):c.5384+3G>C rs1843010026
NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr) rs2080244695
NM_020754.4(ARHGAP31):c.745A>G (p.Ser249Gly) rs2080497464
NM_020812.4(DOCK6):c.100C>G (p.His34Asp) rs201065561
NM_020812.4(DOCK6):c.5272G>A (p.Gly1758Ser)
NM_020812.4(DOCK6):c.5345T>C (p.Ile1782Thr) rs866624292

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.