ClinVar Miner

List of variants reported as benign for Kindler syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.*1777dup rs397756084 1.00000
NM_017671.4(FERMT1):c.-666G>A rs2295433 0.70890
NM_017671.5(FERMT1):c.-18-11T>G rs2273423 0.60441
NM_017671.5(FERMT1):c.114T>C (p.His38=) rs10373 0.51823
NM_017671.5(FERMT1):c.1577G>A (p.Arg526Lys) rs2232074 0.41183
NM_017671.5(FERMT1):c.1575A>G (p.Lys525=) rs2232073 0.41177
NM_017671.5(FERMT1):c.152-4G>A rs2295435 0.39838
NM_017671.5(FERMT1):c.1695T>C (p.Phe565=) rs753927 0.36989
NM_017671.5(FERMT1):c.-105C>G rs6139922 0.29734
NM_017671.5(FERMT1):c.*2069T>C rs1059396 0.27473
NM_017671.5(FERMT1):c.*1464C>T rs1059391 0.23405
NM_017671.5(FERMT1):c.*2058C>T rs12945 0.22416
NM_017671.5(FERMT1):c.-185A>G rs2281532 0.16653
NM_017671.5(FERMT1):c.1674G>A (p.Ala558=) rs2232079 0.14462
NM_017671.5(FERMT1):c.*1155T>C rs6139909 0.14139
NM_017671.5(FERMT1):c.211C>T (p.Leu71=) rs1056141 0.10325
NM_017671.5(FERMT1):c.479T>C (p.Ile160Thr) rs16991866 0.09972
NM_017671.5(FERMT1):c.*902A>G rs6053878 0.09221
NM_017671.5(FERMT1):c.532+8T>C rs41308641 0.08888
NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys) rs62200482 0.06354
NM_017671.4(FERMT1):c.-366C>G rs2281533 0.05984
NM_017671.5(FERMT1):c.1264+14A>G rs111975159 0.05267
NM_017671.5(FERMT1):c.1153C>T (p.Leu385=) rs35413391 0.05264
NM_017671.4(FERMT1):c.-301C>T rs116782539 0.04435
NM_017671.5(FERMT1):c.*2016T>A rs6117066 0.04406
NM_017671.5(FERMT1):c.234C>T (p.Asp78=) rs57272794 0.03636
NM_017671.5(FERMT1):c.722T>C (p.Val241Ala) rs55666319 0.03439
NM_017671.5(FERMT1):c.-28T>C rs7273551 0.02930
NM_017671.5(FERMT1):c.*193C>T rs16991740 0.02771
NM_017671.5(FERMT1):c.*194G>A rs114990723 0.01786
NM_017671.5(FERMT1):c.*72G>T rs2232084 0.01663
NM_017671.5(FERMT1):c.1884C>T (p.Asn628=) rs2232083 0.00821
NM_017671.5(FERMT1):c.*1195A>G rs111645039 0.00763
NM_017671.5(FERMT1):c.*1386A>T rs144516379 0.00742
NM_017671.5(FERMT1):c.*1458C>T rs149665640 0.00733
NM_017671.5(FERMT1):c.1416G>A (p.Ser472=) rs148992845 0.00616
NM_017671.5(FERMT1):c.467A>G (p.Asn156Ser) rs138019177 0.00558
NM_017671.5(FERMT1):c.1861-8T>C rs2232082 0.00523
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_017671.5(FERMT1):c.51C>T (p.Arg17=) rs147105196 0.00502
NM_017671.5(FERMT1):c.*1358T>G rs113096626 0.00399
NM_017671.4(FERMT1):c.-456C>A rs80350329 0.00220
NM_017671.4(FERMT1):c.-514T>C rs73604924
NM_017671.4(FERMT1):c.-646G>C rs2295432

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.