List of variants in gene KMT2A reported as likely pathogenic by GeneDx

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_001197104.2(KMT2A):c.139G>C (p.Gly47Arg)	rs1131691365
NM_001197104.2(KMT2A):c.2719C>T (p.Pro907Ser)	rs1064797056
NM_001197104.2(KMT2A):c.3215G>T (p.Cys1072Phe)	rs1085307947
NM_001197104.2(KMT2A):c.3452G>A (p.Arg1151Gln)	rs1555038083
NM_001197104.2(KMT2A):c.3559C>T (p.Gln1187Ter)
NM_001197104.2(KMT2A):c.3569+3A>C	rs1064796644
NM_001197104.2(KMT2A):c.4301G>C (p.Cys1434Ser)	rs1131691287
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg)	rs1131691433
NM_001197104.2(KMT2A):c.4423TGT[1] (p.Cys1476del)	rs1555041617
NM_001197104.2(KMT2A):c.5351A>G (p.Lys1784Arg)	rs1064796776
NM_001197104.2(KMT2A):c.6505+1G>A	rs1555045834

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