ClinVar Miner

List of variants studied for KBG syndrome by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) rs1555529551
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) rs761848111
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929

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