List of variants reported as not provided for Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001080517.3(SETD5):c.1401dup (p.Glu468fs)	rs2472831620
NM_001080517.3(SETD5):c.1474G>T (p.Glu492Ter)	rs2472854103
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)	rs1553635637
NM_001080517.3(SETD5):c.2788dup (p.Cys930fs)	rs2473803761
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)	rs587777327
NM_001080517.3(SETD5):c.3195+1G>T	rs1553639194
NM_001080517.3(SETD5):c.3647A>G (p.Glu1216Gly)	rs1131691446
NM_001080517.3(SETD5):c.651T>G (p.Tyr217Ter)	rs2472657657

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