ClinVar Miner

List of variants reported as pathogenic for KBG syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
NC_000016.9:g.(?_89334866)_(89355098_?)del
NC_000016.9:g.(?_89334866)_(89383447_?)del
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs) rs1567574291
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs) rs1567572265
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) rs1555525977
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115

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