ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595

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