ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant distal myopathy by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698

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