ClinVar Miner

List of variants reported as uncertain significance for congenital multicore myopathy with external ophthalmoplegia by Baylor Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg) rs905232339 0.00001
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg) rs752855919
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr) rs1204041410
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser) rs118192161

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