List of variants in gene KMT2D reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)	rs370243498	0.00031
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)	rs766543419	0.00009
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala)	rs377457393	0.00002
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)	rs1258008817	0.00001
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del)	rs576788910
NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu)	rs1592118836
NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr)
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu)	rs183347186
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)	rs201623566

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