ClinVar Miner

List of variants studied for Kabuki syndrome 1 by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10741-23_10741-2del
NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)
NM_003482.4(KMT2D):c.9872_9882dup (p.Met3295fs) rs2120479652

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