ClinVar Miner

List of variants reported as likely pathogenic for skeletal muscle disorder by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (625):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.14701C>T rs1569484669
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) rs121434544
NM_001164508.2(NEB):c.21417+1G>A rs2153515061
NM_001382567.1(STIM1):c.1403del (p.Pro468fs) rs2133226731
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927

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