List of variants in gene SIX1 reported as pathogenic for branchiootic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005982.4(SIX1):c.307dup (p.Leu103fs)
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)	rs80356459
NM_005982.4(SIX1):c.329G>A (p.Arg110Gln)	rs1064794308
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg)	rs121909770
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)	rs104894478
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	rs104894478
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn)	rs1303947821

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