List of variants studied for Craniofrontonasal syndrome by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004429.5(EFNB1):c.566T>C (p.Val189Ala)	rs16989105	0.01754
NM_004429.5(EFNB1):c.271A>C (p.Thr91Pro)	rs1057519032
NM_004429.5(EFNB1):c.407C>T (p.Ser136Leu)	rs1057519033
NM_004429.5(EFNB1):c.466C>T (p.Arg156Cys)	rs1057519034
NM_004429.5(EFNB1):c.561del (p.Asn187fs)	rs1057519035

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