ClinVar Miner

List of variants reported as likely pathogenic for congenital multicore myopathy with external ophthalmoplegia by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000540.3(RYR1):c.15021+2T>G
NM_000540.3(RYR1):c.165+1G>T
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
NM_000540.3(RYR1):c.693del (p.Ile232fs)
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997

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