ClinVar Miner

List of variants studied for congenital multicore myopathy with external ophthalmoplegia by Juno Genomics, Hangzhou Juno Genomics, Inc

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.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
NM_000540.3(RYR1):c.14138C>T (p.Pro4713Leu)
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)

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