List of variants reported as likely pathogenic for Baraitser-Winter cerebrofrontofacial syndrome by Baylor Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)	rs2128241170
NM_001101.5(ACTB):c.118C>T (p.His40Tyr)	rs1373863123
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu)	rs281875334
NM_001101.5(ACTB):c.629G>A (p.Arg210His)	rs1064793444
NM_001101.5(ACTB):c.70G>A (p.Asp24Asn)	rs2128241451
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly)	rs886041270
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr)	rs1057518673

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