List of variants in gene KMT2E reported as uncertain significance for See cases

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_182931.3(KMT2E):c.1239del (p.Asn414fs)	rs1584768283
NM_182931.3(KMT2E):c.1603del (p.Leu535fs)	rs1584783327
NM_182931.3(KMT2E):c.167del (p.Tyr56fs)	rs1584745301
NM_182931.3(KMT2E):c.1812del (p.Ile605fs)	rs1584796727
NM_182931.3(KMT2E):c.2735C>T (p.Thr912Met)
NM_182931.3(KMT2E):c.280del (p.Thr94fs)	rs1584746915
NM_182931.3(KMT2E):c.3193_3230del (p.Ser1065fs)	rs1584805738
NM_182931.3(KMT2E):c.3198del (p.Trp1067fs)	rs1584805745
NM_182931.3(KMT2E):c.3527_3530del (p.Thr1176fs)	rs1584807875
NM_182931.3(KMT2E):c.4126C>T (p.Pro1376Ser)	rs1584816566
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)	rs74375534
NM_182931.3(KMT2E):c.4485_4486del (p.Gln1496fs)	rs1584817845
NM_182931.3(KMT2E):c.450del (p.Asp150fs)	rs1584751179
NM_182931.3(KMT2E):c.4829del (p.Leu1610fs)	rs1243172283
NM_182931.3(KMT2E):c.4984G>C (p.Val1662Leu)
NM_182931.3(KMT2E):c.5453_5460del (p.Val1818fs)	rs1584821980
NM_182931.3(KMT2E):c.556+1G>A	rs1584761229
NM_182931.3(KMT2E):c.850T>C (p.Tyr284His)	rs868001076
NM_182931.3(KMT2E):c.997del (p.Glu333fs)	rs1584765943

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