ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_182961.4(SYNE1):c.13075T>C (p.Trp4359Arg)
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly) rs754120599

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