List of variants reported as likely pathogenic for Branchiootic syndrome 3

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005982.4(SIX1):c.316G>A (p.Val106Met)	rs2140241235
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	rs797044960
NM_005982.4(SIX1):c.386_391del (p.Tyr129_Cys130del)	rs2502643915
NM_005982.4(SIX1):c.397_399del (p.Glu133del)	rs80356460
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg)	rs1895001312
NM_005982.4(SIX1):c.421G>T (p.Glu141Ter)	rs761906849
NM_005982.4(SIX1):c.501G>C (p.Gln167His)	rs2140241012
NM_005982.4(SIX1):c.517A>C (p.Lys173Gln)	rs2140240995
NM_005982.4(SIX1):c.560+1G>C	rs863223330
NM_005982.4(SIX1):c.733A>G (p.Asn245Asp)	rs2502639357

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