ClinVar Miner

List of variants studied for hereditary skin disorder by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (768):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.209+2047A>G
NM_001399.5(EDA):c.706+1G>C rs886039344
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu) rs1747645807

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