List of variants reported as pathogenic for KBG syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	rs886039902
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)	rs2034353033
NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs)	rs2151743944
NM_013275.6(ANKRD11):c.618del (p.His206fs)	rs1597477691
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs)	rs1597435393
NM_013275.6(ANKRD11):c.744+1G>T
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147
NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)	rs1555523386

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