List of variants reported as pathogenic for developmental defect during embryogenesis by King Laboratory, University of Washington

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)	rs374334794	0.00003
NC_000011.10:g.61969097_61969098insGA
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
NM_021830.5(TWNK):c.333del (p.Leu112fs)	rs886037832
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)	rs104893651
NM_181458.4(PAX3):c.812G>A (p.Arg271His)	rs774528745

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