ClinVar Miner

List of variants reported as likely benign for Irido-corneo-trabecular dysgenesis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.-1-14C>T rs4987134 0.02460
NM_000104.4(CYP1B1):c.*2371T>C rs9309020 0.02296
NM_000104.4(CYP1B1):c.*926A>C rs9341261 0.01416
NM_000104.4(CYP1B1):c.*2158T>C rs112948057 0.01121
NM_000104.4(CYP1B1):c.*2261A>C rs77534033 0.00985
NM_000104.4(CYP1B1):c.*1853G>T rs9341265 0.00338
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile) rs150803261 0.00009
NM_000966.6(RARG):c.245C>T (p.Pro82Leu) rs769476878 0.00001
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg) rs869025266 0.00001
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe) rs869025267
NM_153427.2(PITX2):c.-1532C>A rs117231596

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.