ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.133dup (p.Glu45fs)
NM_003482.4(KMT2D):c.297del (p.Ser102fs)	rs1938291650
NM_003482.4(KMT2D):c.8366+2T>G	rs1943368267

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