ClinVar Miner

List of variants studied for May-Hegglin anomaly by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_002473.5(MYH9):c.1730T>C (p.Val577Ala)
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.5(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.5(MYH9):c.5081G>A (p.Arg1694His) rs538330756
NM_002473.5(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234
NM_002473.5(MYH9):c.658G>A (p.Ala220Thr) rs1556637683
NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln)
NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr)
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)

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.