List of variants in gene KMT2D reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)	rs375915416	0.00007
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser)	rs762567167	0.00005
NM_003482.4(KMT2D):c.10379A>G (p.Gln3460Arg)	rs1943129038
NM_003482.4(KMT2D):c.13650del (p.Leu4551fs)	rs1942874047
NM_003482.4(KMT2D):c.2426A>C (p.Gln809Pro)	rs1398110011
NM_003482.4(KMT2D):c.297del (p.Ser102fs)	rs1938291650
NM_003482.4(KMT2D):c.4307C>T (p.Ala1436Val)	rs2120611836
NM_003482.4(KMT2D):c.5473G>A (p.Asp1825Asn)	rs202048008
NM_003482.4(KMT2D):c.6625C>T (p.Pro2209Ser)	rs1943503730
NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu)	rs1943441906
NM_003482.4(KMT2D):c.7883T>C (p.Leu2628Pro)	rs1943413102
NM_003482.4(KMT2D):c.8366+2T>G	rs1943368267
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)	rs1555191203

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