ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Laboratory of Functional Genomics, Research Centre for Medical Genetics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001195518.2:g.(?_74326370)_(74326571_?)del
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)

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