ClinVar Miner

List of variants reported as likely benign for Nemaline myopathy 7 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138638.5(CFL2):c.441G>A (p.Ser147=) rs145938782 0.00028
NM_138638.5(CFL2):c.267C>T (p.Tyr89=) rs142164698 0.00011
NM_138638.5(CFL2):c.4-95A>G rs375656153 0.00007
NM_138638.5(CFL2):c.198C>T (p.Asp66=) rs75685384 0.00001
NM_138638.5(CFL2):c.255C>T (p.Tyr85=) rs1057523939 0.00001
NM_138638.5(CFL2):c.276A>G (p.Lys92=) rs1468647166 0.00001
NM_138638.5(CFL2):c.492A>G (p.Lys164=) rs766364990 0.00001
NM_138638.5(CFL2):c.495A>G (p.Pro165=) rs201619073 0.00001
NM_138638.5(CFL2):c.126T>C (p.Asp42=)
NM_138638.5(CFL2):c.147A>T (p.Val49=) rs925438451
NM_138638.5(CFL2):c.273A>G (p.Thr91=)
NM_138638.5(CFL2):c.311+15A>G
NM_138638.5(CFL2):c.312-12T>G
NM_138638.5(CFL2):c.312-19A>T
NM_138638.5(CFL2):c.357C>T (p.Ser119=) rs1250346386
NM_138638.5(CFL2):c.360T>C (p.Ser120=)
NM_138638.5(CFL2):c.384T>C (p.Phe128=)
NM_138638.5(CFL2):c.388+17T>C
NM_138638.5(CFL2):c.389-15G>C
NM_138638.5(CFL2):c.389-4T>C
NM_138638.5(CFL2):c.389-8C>T
NM_138638.5(CFL2):c.389-9T>C
NM_138638.5(CFL2):c.389-9del rs1555333750
NM_138638.5(CFL2):c.4-12_4-11del
NM_138638.5(CFL2):c.4-14G>T rs776588232
NM_138638.5(CFL2):c.4-17dup
NM_138638.5(CFL2):c.408A>G (p.Gln136=)
NM_138638.5(CFL2):c.418T>C (p.Leu140=) rs1594784357
NM_138638.5(CFL2):c.51T>C (p.Asp17=)
NM_138638.5(CFL2):c.94A>C (p.Arg32=)

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.