ClinVar Miner

List of variants reported as pathogenic for Kindler syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
FERMT1, IVS3DS, T-C, +2
NM_017671.4(FERMT1):c.-20A>G rs869312722
NM_017671.4(FERMT1):c.0_-19+470del
NM_017671.4(FERMT1):c.1139+2T>C rs869312727
NM_017671.4(FERMT1):c.1139+740G>A rs869312728
NM_017671.4(FERMT1):c.1161del (p.Ala388fs) rs869312729
NM_017671.4(FERMT1):c.1176T>G (p.Tyr392Ter) rs869312730
NM_017671.4(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.4(FERMT1):c.1383C>A (p.Tyr461Ter) rs142328166
NM_017671.4(FERMT1):c.1675T>C (p.Trp559Arg) rs869312719
NM_017671.4(FERMT1):c.1714_1715insA (p.Val572fs) rs1568654138
NM_017671.4(FERMT1):c.1848G>A (p.Trp616Ter) rs869312731
NM_017671.4(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.4(FERMT1):c.299_301del (p.Arg100del) rs869312720
NM_017671.4(FERMT1):c.373del (p.Cys125fs) rs869312723
NM_017671.4(FERMT1):c.464del (p.Asn155fs) rs1568664492
NM_017671.4(FERMT1):c.550dup (p.Ser184fs) rs869312724
NM_017671.4(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.4(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017671.4(FERMT1):c.811C>T (p.Arg271Ter) rs121918293
NM_017671.4(FERMT1):c.850-272_1139+53del
NM_017671.4(FERMT1):c.862C>T (p.Arg288Ter) rs121918294
NM_017671.4(FERMT1):c.889A>G (p.Arg297Gly) rs779612399
NM_017671.4(FERMT1):c.910G>T (p.Glu304Ter) rs146180696
NM_017671.4(FERMT1):c.957+1G>A rs869312725
NM_017671.4(FERMT1):c.958-1G>A rs869312726
NM_017671.4(FERMT1):c.992_993CA[1] (p.Gln332fs) rs866141540
NM_017671.4:c.676insC
g.6109607_6112272del
g.6116239_6120157del

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.