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: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) rs146180696 0.00005
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) rs121918294 0.00001
NM_017671.4(FERMT1):c.0_-19+470del
NM_017671.4:c.676insC
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.5(FERMT1):c.1264+1G>A rs1982268239
NM_017671.5(FERMT1):c.1264+363_1372-602del
NM_017671.5(FERMT1):c.1371+4A>G rs1064793979
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) rs1982142302
NM_017671.5(FERMT1):c.1714_1715insA (p.Val572fs) rs1568654138
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter) rs869312731
NM_017671.5(FERMT1):c.1861-1G>A rs779915885
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) rs1983080839
NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter)
NM_017671.5(FERMT1):c.385+2T>C rs1411462678
NM_017671.5(FERMT1):c.464del (p.Asn155fs) rs1568664492
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017671.5(FERMT1):c.850-272_1139+53del
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) rs2123118335
NM_017671.5:c.892_893insALU
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.