ClinVar Miner

List of variants studied for congenital myopathy by Center for Genetic Medicine Research, Children's National Medical Center

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001267550.2(TTN):c.[102956_102958delCAA];[62722C>T]
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854

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.