ClinVar Miner

List of variants in gene HOXC13 reported as pathogenic for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017410.2(HOXC13):c.-24497_736+2389del
NM_017410.3(HOXC13):c.355del (p.Leu119fs) rs398122377
NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter) rs398122913

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