List of variants reported as pathogenic for KBG syndrome by Genome Medicine, Institute for Basic Research in Developmental Disabilities

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.1893del (p.Lys631fs)	rs2151762237
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs)	rs2151761128
NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs)	rs2151760723
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs)	rs2034485034
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs)	rs1555529181
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)	rs886039902
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	rs1064794330
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)	rs886039477
NM_013275.6(ANKRD11):c.4489_4490del (p.Arg1497fs)	rs2151749530
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)	rs2151745705
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs)	rs2034218920
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)	rs2151742685
NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs)	rs2151735128
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	rs797044900

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