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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala)	rs1784814961	0.00001
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu)	rs1554329646
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp)	rs886041268
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)	rs1562720119
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser)	rs587779770
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp)	rs1411316425
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)	rs1554329317
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe)	rs1784841235
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)	rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)	rs782217473
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)	rs11549190
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.457A>G (p.Met153Val)	rs1555666789
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp)	rs1362994447
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)	rs1555666715
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)

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