List of variants in gene THAP1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018105.3(THAP1):c.197_198del (p.Glu66fs)	rs1802672249
NM_018105.3(THAP1):c.201CAA[2] (p.Asn69del)	rs1563644810
NM_018105.3(THAP1):c.390dup (p.Val131fs)	rs1752065573

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