List of variants studied for Branchiootic syndrome 3 by GeneReviews

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005982.4(SIX1):c.317T>G (p.Val106Gly)	rs397515560
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)	rs80356459
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys)	rs397515561
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	rs797044960
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	rs104894478
NM_005982.4(SIX1):c.397_399del (p.Glu133del)	rs80356460
NM_005982.4(SIX1):c.50T>A (p.Val17Glu)	rs397515562

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