ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317

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