ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001458.4(FLNC):c.643G>A (p.Val215Met) rs754309921
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470

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