ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Duke University Health System Sequencing Clinic, Duke University Health System

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038

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