List of variants in gene KMT2D reported as likely pathogenic by GeneDx

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10356-12G>A	rs1555189467
NM_003482.4(KMT2D):c.10507+4A>G	rs2120456590
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro)	rs1555189307
NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln)	rs2120449499
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)	rs398123708
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)	rs1555185875
NM_003482.4(KMT2D):c.15467A>G (p.Tyr5156Cys)	rs769483933
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)	rs398123729
NM_003482.4(KMT2D):c.15785-10T>G	rs1555185358
NM_003482.4(KMT2D):c.15854C>G (p.Pro5285Arg)	rs1555185337
NM_003482.4(KMT2D):c.16012T>C (p.Cys5338Arg)	rs1057524689
NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys)	rs1555184684
NM_003482.4(KMT2D):c.4139G>T (p.Cys1380Phe)
NM_003482.4(KMT2D):c.4198T>C (p.Cys1400Arg)
NM_003482.4(KMT2D):c.49+2T>A	rs767591619
NM_003482.4(KMT2D):c.571C>T (p.Arg191Trp)	rs1555198522
NM_003482.4(KMT2D):c.8366G>A (p.Arg2789Gln)

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