List of variants reported as likely pathogenic for KBG syndrome by Autoinflammatory diseases unit, CHU de Montpellier

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)	rs2034353033
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs)	rs2034308476
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)	rs2033533123
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)	rs972669347

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