List of variants in gene combination BLNK, ZNF518A reported as pathogenic for immune system disorder

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)	rs1554894837	0.00001
NM_013314.4(BLNK):c.1031del (p.Lys344fs)	rs2133946382

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