List of variants in gene KMT2D reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)
NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	rs1555188155
NM_003482.4(KMT2D):c.1248del (p.Lys417fs)
NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
NM_003482.4(KMT2D):c.14075+1G>A	rs1057516039
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)	rs398123721
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)	rs797045659
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln)	rs1555185217
NM_003482.4(KMT2D):c.3190del (p.Val1064fs)
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs)	rs756471180
NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)
NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)

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