ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Centogene AG - the Rare Disease Company

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_147127.5(EVC2):c.1111G>A (p.Glu371Lys) rs929810328 0.00003
NM_020529.3(NFKBIA):c.853G>A (p.Asp285Asn) rs1448842981 0.00001
NM_003722.5(TP63):c.858dup (p.Leu287fs) rs2108801923

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