ClinVar Miner

List of variants studied for pure hair and nail ectodermal dysplasia by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513 0.00009
NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) rs1565766888
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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