ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p13.11(chr16:15737239-15820210)
NC_000016.9:g.(?_15802668)_(15932109_?)del
NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs) rs1596675237
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_002474.3(MYH11):c.4116+1del rs2151219190
NM_002474.3(MYH11):c.4179dup (p.Lys1394fs)
NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter)
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) rs8046180
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_002474.3(MYH11):c.4578+1G>T rs397514037
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002474.3(MYH11):c.5101_5102del (p.Arg1701fs)
NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter) rs766136761
NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) rs2151192622
NM_022844.2(MYH11):c.[4578+1G>T;5273G>A]

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.