List of variants in gene KMT2D reported as pathogenic by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.13320del (p.Ile4440fs)	rs1845429019
NM_003482.4(KMT2D):c.15834del (p.Asp5279fs)	rs1592102369
NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter)	rs1592142093
NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter)	rs1592139573
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter)	rs1251778848
NM_003482.4(KMT2D):c.9223dup (p.Ser3075fs)	rs1592130816

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