List of variants reported as likely pathogenic for Baraitser-Winter syndrome 1 by Invitae

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Total variants: 9

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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

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