ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.8989-15T>G rs372370665

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