ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 1 by MGZ Medical Genetics Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg) rs758891557 0.00001
NM_000257.4(MYH7):c.2642T>C (p.Leu881Pro) rs1566531303
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) rs752930302

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.