List of variants in gene KMT2D reported as likely pathogenic by Ambry Genetics

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.16412G>A (p.Arg5471Lys)	rs1555184684
NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr)	rs1555195158
NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter)	rs1555198910

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