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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	rs1597461100
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	rs886039902
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	rs1064793539
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)	rs2034353033
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer)	rs1555527341
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.7523A>T (p.Gln2508Leu)	rs2151703297
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013275.6(ANKRD11):c.977del (p.Gly326fs)	rs1555529979

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