ClinVar Miner

List of variants reported as benign for visceral myopathy 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001615.4(ACTG2):c.-6C>T rs1050146 0.76509
NM_001615.4(ACTG2):c.-36-12G>C rs1721241 0.76235
NM_002474.3(MYH11):c.2520+46C>G rs2384934 0.75311
NM_001615.4(ACTG2):c.256-3T>C rs702461 0.61080
NM_001615.4(ACTG2):c.354A>G (p.Glu118=) rs756128 0.60595
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554 0.49695
NM_002474.3(MYH11):c.4117-44C>T rs11130 0.47916
NM_002474.3(MYH11):c.1249-11G>C rs2280764 0.46907
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_002474.3(MYH11):c.5083-46C>A rs11646134 0.41007
NM_002474.3(MYH11):c.2472C>T (p.Ala824=) rs1050113 0.26411
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_002474.3(MYH11):c.2181-30C>T rs2293736 0.05943

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.