ClinVar Miner

List of variants in gene combination LOC130055404, TINF2 reported as uncertain significance for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.-233T>G rs868258192 0.00030
NM_001099274.3(TINF2):c.-130A>G rs2040602733
NM_001099274.3(TINF2):c.-223C>G rs886050434
NM_001099274.3(TINF2):c.-50A>G rs886050432
NM_001099274.3(TINF2):c.-93T>C rs886050433

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