ClinVar Miner

List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.769G>A (p.Gly257Arg)
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573

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