List of variants in gene KMT2C 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_170606.3(KMT2C):c.11632_11633insG (p.Met3878fs)	rs1064796813
NM_170606.3(KMT2C):c.13117C>T (p.Pro4373Ser)	rs1057522023
NM_170606.3(KMT2C):c.13154A>T (p.Lys4385Ile)	rs1064795761
NM_170606.3(KMT2C):c.14344-1G>A	rs1057518093
NM_170606.3(KMT2C):c.3709C>T (p.Arg1237Ter)	rs938655561
NM_170606.3(KMT2C):c.4279_4288del (p.Ala1427fs)
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)	rs587777073
NM_170606.3(KMT2C):c.6774_6775del (p.Pro2259fs)	rs1554501612
NM_170606.3(KMT2C):c.7718C>T (p.Pro2573Leu)	rs2129115309
NM_170606.3(KMT2C):c.9057G>C (p.Gln3019His)	rs755043772
NM_170606.3(KMT2C):c.9444dup (p.Ile3149fs)	rs1587896236

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