ClinVar Miner

List of variants reported as likely benign for autosomal dominant Emery-Dreifuss muscular dystrophy by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129

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