ClinVar Miner

List of variants in gene C12orf57 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val) rs139938808 0.00234
NM_138425.4(C12orf57):c.-3C>T rs113296395 0.00178
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg) rs139068225 0.00059
NM_138425.4(C12orf57):c.-4C>T rs377078607 0.00053
NM_138425.4(C12orf57):c.-5G>A rs373573883 0.00003
NM_138425.4(C12orf57):c.240G>A (p.Lys80=) rs781825705 0.00001
NM_138425.4(C12orf57):c.136_138del (p.Asp46del) rs781925545
NM_138425.4(C12orf57):c.76G>A (p.Ala26Thr) rs781935609
NM_138425.4(C12orf57):c.91G>C (p.Glu31Gln) rs797045422

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.