ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Mayo Clinic Laboratories, Mayo Clinic

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_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_198253.3(TERT):c.142C>G (p.Arg48Gly) rs1554043151

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