ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile) rs1377668924

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