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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1097dup (p.Ser368fs)	rs1554329078
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter)	rs1554329068
NM_001101.5(ACTB):c.193C>G (p.Leu65Val)	rs281875332
NM_001101.5(ACTB):c.329del (p.Leu110fs)	rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys)	rs397515470
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp)	rs281875331
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)	rs587779774
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)	rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His)	rs281875334

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