ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.20157+2T>A rs1553717306
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter) rs745640786
NM_004006.3(DMD):c.4519-2A>C rs2097958830

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