List of variants studied for KBG syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter)	rs749607205
NM_013275.6(ANKRD11):c.1742_1743del (p.Ser580_Ser581insTer)	rs2151762916
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	rs886041125
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs)	rs2034502951
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs)	rs2034487965
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	rs886039902
NM_013275.6(ANKRD11):c.2516_2517del (p.Asp839fs)
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	rs1064794330
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)	rs2151753260
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs)	rs2034307984
NM_013275.6(ANKRD11):c.5285A>G (p.Asp1762Gly)	rs2034211358
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs)	rs2034195455
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)	rs2034054366

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