List of variants in gene KMT2E 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_182931.3(KMT2E):c.1016del (p.Asn339fs)	rs1797572218
NM_182931.3(KMT2E):c.2337C>A (p.Tyr779Ter)	rs541493300
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter)	rs1584803745
NM_182931.3(KMT2E):c.262G>T (p.Glu88Ter)
NM_182931.3(KMT2E):c.2632C>T (p.Gln878Ter)	rs2536506052
NM_182931.3(KMT2E):c.2960_2964del (p.Asn986_Leu987insTer)	rs1798957076
NM_182931.3(KMT2E):c.3198_3234del (p.Trp1067fs)	rs1798970895
NM_182931.3(KMT2E):c.3488del (p.Arg1163fs)
NM_182931.3(KMT2E):c.4234del (p.Ser1412fs)
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)	rs1243172283
NM_182931.3(KMT2E):c.871C>T (p.Gln291Ter)	rs201187955

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