List of variants reported as pathogenic for Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001080517.3(SETD5):c.1333C>T (p.Arg445Ter)	rs886039432
NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter)	rs2041797086
NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter)	rs369459846
NM_001080517.3(SETD5):c.1495del (p.Asp499fs)	rs2041856807
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)

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