List of variants in gene KMT2B reported as pathogenic by Ambry Genetics

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_014727.3(KMT2B):c.1127_1130del (p.Lys376fs)	rs1969141028
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs)	rs1555727493
NM_014727.3(KMT2B):c.2425C>T (p.Gln809Ter)	rs1555729045
NM_014727.3(KMT2B):c.3145dup (p.Ala1049fs)	rs1969316263
NM_014727.3(KMT2B):c.3400C>T (p.Gln1134Ter)	rs1555730069
NM_014727.3(KMT2B):c.4053_4063del (p.Glu1351fs)
NM_014727.3(KMT2B):c.5724_5751del (p.Pro1909fs)	rs1555732564
NM_014727.3(KMT2B):c.6245_6266dup (p.Val2090fs)	rs1555732987
NM_014727.3(KMT2B):c.6552dup (p.Lys2185fs)
NM_014727.3(KMT2B):c.7513_7514del (p.Asn2505fs)
NM_014727.3(KMT2B):c.7759C>T (p.Arg2587Ter)	rs1555734923

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