List of variants in gene KMT2A 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.1038del (p.Val347fs)	rs1555035779
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr)	rs1555038125
NM_001197104.2(KMT2A):c.4599dup (p.Lys1534Ter)	rs398122881
NM_001197104.2(KMT2A):c.6913del (p.Ser2305fs)	rs398122880
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)	rs387907275
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter)	rs1555046568
NM_001197104.2(KMT2A):c.8267del (p.Asn2755_Leu2756insTer)	rs398122879
NM_001197104.2(KMT2A):c.8806_8809del (p.Ser2935_Val2936insTer)	rs398122878

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