List of variants in gene KMT2A reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 11q23.3(chr11:118354898-118355690)x1
NM_001197104.2(KMT2A):c.1808del (p.Pro603fs)	rs2134264496
NM_001197104.2(KMT2A):c.2322_2323del (p.Ser775fs)	rs1555036478
NM_001197104.2(KMT2A):c.2517dup (p.Thr840fs)	rs1057519149
NM_001197104.2(KMT2A):c.3193G>T (p.Gly1065Ter)	rs1064797162
NM_001197104.2(KMT2A):c.4177dup (p.Ile1393fs)	rs1591388321
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)	rs1555034779
NM_001197104.2(KMT2A):c.7874G>T (p.Arg2625Leu)	rs1555046870
NM_001197104.2(KMT2A):c.93_163del (p.Arg32fs)	rs2134152451

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