ClinVar Miner

List of variants reported as likely pathogenic for cap myopathy by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.642+2T>C

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.