ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 2, autosomal dominant by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) rs267607578

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