ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs) rs2151766359
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly) rs1064795497
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter) rs2033085976

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