ClinVar Miner

List of variants reported as likely pathogenic for congenital myopathy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser) rs1571892193
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) rs750990843
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter) rs1695634838
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928

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.