List of variants in gene KMT2D reported as uncertain significance by Gharavi Laboratory, Columbia University

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.5248_5250del (p.Glu1750del)	rs1403096314	0.00001
NM_003482.4(KMT2D):c.11223_11234del (p.Gln3742_Gln3745del)	rs1565778883
NM_003482.4(KMT2D):c.11718_11759dup (p.3903QQQLQQQQQLQQQQ[3])	rs754086811
NM_003482.4(KMT2D):c.1868_1948del (p.Ala623_Glu649del)	rs1565818774
NM_003482.4(KMT2D):c.2091_2094delinsTATG (p.Thr698Met)	rs1565818194
NM_003482.4(KMT2D):c.2404_2405delinsCG (p.Glu802Arg)	rs1565816786
NM_003482.4(KMT2D):c.9843_9844delinsCT (p.Gln3281_Gln3282delinsHisTer)	rs1565785981

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