ClinVar Miner

List of variants reported as likely benign for Cutis Laxa, Recessive by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_012463.3(ATP6V0A2):c.-227A>G rs561163813 0.00832
NM_002860.4(ALDH18A1):c.-69CG[4] rs200542959
NM_012463.4(ATP6V0A2):c.*2128_*2129del rs150303181
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531

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.