List of variants in gene TPP2 reported as pathogenic for Immunodeficiency 78 with autoimmunity and developmental delay

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001330588.2(TPP2):c.1499G>A (p.Gly500Asp)	rs1882325267
NM_001330588.2(TPP2):c.2343C>G (p.Tyr781Ter)	rs1039236504
NM_001330588.2(TPP2):c.2394-550_2952+659del
NM_001330588.2(TPP2):c.433del (p.Ala145fs)	rs1880737834

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