ClinVar Miner

List of variants in gene THAP1 reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.427A>G (p.Met143Val) rs374512193 0.00006

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