List of variants reported as likely pathogenic for Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001080517.3(SETD5):c.1895G>T (p.Arg632Leu)	rs772791035
NM_001080517.3(SETD5):c.3229G>T (p.Glu1077Ter)
NM_001080517.3(SETD5):c.740del (p.Pro247fs)
NM_001080517.3(SETD5):c.972T>G (p.Phe324Leu)	rs2041370929

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