List of variants in gene KMT2D reported as pathogenic by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)	rs1555185875
NM_003482.4(KMT2D):c.1845dup (p.Pro616fs)	rs1555197320
NM_003482.4(KMT2D):c.8841_8844del (p.His2947fs)	rs1555190924

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