ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940 0.00001
NM_213595.4(ISCU):c.418+382G>C rs767000507 0.00001

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