ClinVar Miner

Variants in gene MYH3 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002470.4(MYH3):c.376G>C (p.Val126Leu) rs201787435 0.00029
NM_002470.4(MYH3):c.4324G>A (p.Ala1442Thr) rs201602783 0.00021
NM_002470.4(MYH3):c.4987C>T (p.Arg1663Trp) rs777159320 0.00008
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile) rs750773513 0.00003
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00002
NM_002470.4(MYH3):c.1260+18G>A rs771181525 0.00001
NM_002470.4(MYH3):c.4801G>A (p.Ala1601Thr) rs764578014 0.00001
NM_002470.4(MYH3):c.1002C>T (p.Asp334=)
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-5C>T
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711

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.