ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Pediatric Genetics Clinic, Sheba Medical Center

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_147127.5(EVC2):c.24del (p.Arg9fs) rs2151750195

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