ClinVar Miner

List of variants reported as pathogenic for KBG syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) rs863223320
NM_013275.6(ANKRD11):c.5951_5952CA[1] (p.Gln1985fs) rs863223321
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) rs863225257
NM_013275.6(ANKRD11):c.7570-1G>C rs863223319

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