ClinVar Miner

List of variants studied for palmoplantar keratoderma-esophageal carcinoma syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.272+10C>T rs374497069 0.00074
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) rs146553433 0.00033
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) rs387907130

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