ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly sequence by Muenke lab,National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_032890.5(DISP1):c.743C>T (p.Ala248Val) rs1029577112
NM_033164.4(FGF8):c.464A>G (p.Asn155Ser) rs778082287
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033254.4(BOC):c.1667G>A (p.Gly556Glu) rs1553745274

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.