List of variants studied for aortic valve stenosis by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
ELN, 100-KB DEL
NC_000007.14:g.(74030000_74032000)_(74062117_74062163)del
NM_000501.4(ELN):c.1040del (p.Pro347fs)	rs1563826213
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	rs137854452
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	rs137854453
NM_000501.4(ELN):c.1728dup (p.Val577fs)	rs2132322943
NM_000501.4(ELN):c.1737del (p.Phe580fs)	rs2486324663
NM_000501.4(ELN):c.1858+5G>C	rs1554686162
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.526A>T (p.Lys176Ter)	rs137854455
NM_000501.4(ELN):c.800-2A>G	rs727503027
NM_000501.4(ELN):c.800-3C>G	rs397516433
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]

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.