List of variants in gene SETD5 reported as pathogenic by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter)	rs2045177486
NM_001080517.3(SETD5):c.2807_2809delinsAA (p.Leu936fs)	rs2045187265
NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs)	rs1197870764
NM_001080517.3(SETD5):c.387del (p.Gly130fs)
NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs)	rs2125187678

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