List of variants in gene KMT2D reported as pathogenic by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro)	rs1555189307
NM_003482.4(KMT2D):c.10582C>G (p.Leu3528Val)
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003482.4(KMT2D):c.10625T>C (p.Leu3542Pro)
NM_003482.4(KMT2D):c.10658G>T (p.Gly3553Val)
NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln)	rs2120449499
NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter)	rs267607240
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	rs267607237
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)	rs267607239
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met)	rs267607238
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)	rs1452715535

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