ClinVar Miner

List of variants studied for congenital myopathy by Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_020451.3(SELENON):c.301+2T>C
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459

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.