ClinVar Miner

List of variants studied for atypical coarctation of aorta by Yale Center for Mendelian Genomics, Yale University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) rs1600184363
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) rs1600181733
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_001042492.3(NF1):c.1260+5G>A rs1060500253
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro) rs878853900
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys) rs1598738032

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.