ClinVar Miner

List of variants reported as likely pathogenic for Branchiootic syndrome 3

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Total variants: 4

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HGVS	dbSNP
NM_005982.4(SIX1):c.316G>A (p.Val106Met)
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg)
NM_005982.4(SIX1):c.517A>C (p.Lys173Gln)
NM_005982.4(SIX1):c.560+1G>C	rs863223330

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