List of variants in gene KMT2C reported as pathogenic for disease

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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: 37

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HGVS	dbSNP	gnomAD frequency
NM_170606.3(KMT2C):c.10266_10267del (p.Arg3423fs)	rs2487691264
NM_170606.3(KMT2C):c.103del (p.Arg35fs)	rs2486745974
NM_170606.3(KMT2C):c.10480_10483del (p.Asn3494fs)
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)	rs2487689029
NM_170606.3(KMT2C):c.10812_10815del (p.Lys3605fs)	rs1554477105
NM_170606.3(KMT2C):c.11316_11317del (p.Gly3773fs)	rs2487684661
NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter)	rs2091742405
NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)	rs2487587513
NM_170606.3(KMT2C):c.14318del (p.Val4773fs)	rs2487573703
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)	rs1554580083
NM_170606.3(KMT2C):c.1759_1769del (p.Gln587fs)	rs2485846446
NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs)	rs1588573059
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs)	rs1588571802
NM_170606.3(KMT2C):c.2532+1del	rs2129163740
NM_170606.3(KMT2C):c.2829_2832dup (p.Val945fs)	rs2485738685
NM_170606.3(KMT2C):c.3462del (p.Leu1155_Val1156insTer)	rs1588343792
NM_170606.3(KMT2C):c.3940C>T (p.Gln1314Ter)
NM_170606.3(KMT2C):c.3989T>G (p.Leu1330Ter)	rs1246539243
NM_170606.3(KMT2C):c.4123del (p.Thr1375fs)
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)	rs587777073
NM_170606.3(KMT2C):c.4618C>T (p.Gln1540Ter)
NM_170606.3(KMT2C):c.4845G>A (p.Trp1615Ter)	rs2129124731
NM_170606.3(KMT2C):c.4870_4871insTC (p.Gly1624fs)	rs2093658427
NM_170606.3(KMT2C):c.5216del (p.Pro1739fs)	rs1554505381
NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter)	rs2129121010
NM_170606.3(KMT2C):c.560C>G (p.Ser187Ter)	rs1563831738
NM_170606.3(KMT2C):c.568C>T (p.Arg190Ter)
NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)	rs763438739
NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs)	rs2487796038
NM_170606.3(KMT2C):c.6938_6939del (p.Phe2313fs)	rs2129119362
NM_170606.3(KMT2C):c.7123C>T (p.Gln2375Ter)	rs2129119051
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)	rs779659766
NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter)	rs2129115127
NM_170606.3(KMT2C):c.8420_8421del (p.Leu2806_Ser2807insTer)
NM_170606.3(KMT2C):c.8543del (p.Asn2848fs)	rs2093235396
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs)	rs2093231242
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)	rs2093221854

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