List of variants in gene KMT2C studied for Intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp)	rs140626076	0.00036
NM_170606.3(KMT2C):c.2351C>A (p.Ser784Tyr)	rs780343727	0.00001
NM_170606.3(KMT2C):c.11008A>G (p.Asn3670Asp)	rs2092512174
NM_170606.3(KMT2C):c.11683A>G (p.Ser3895Gly)	rs2092042122
NM_170606.3(KMT2C):c.2447dup (p.Tyr816Ter)	rs150073007
NM_170606.3(KMT2C):c.2698G>A (p.Gly900Arg)	rs1366232611
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly)	rs1284707010
NM_170606.3(KMT2C):c.3917A>G (p.Asp1306Gly)	rs1249758583
NM_170606.3(KMT2C):c.560C>G (p.Ser187Ter)	rs1563831738
NM_170606.3(KMT2C):c.6103C>A (p.Pro2035Thr)	rs1053658283
NM_170606.3(KMT2C):c.7070G>T (p.Gly2357Val)	rs898494556
NM_170606.3(KMT2C):c.9801C>G (p.Ile3267Met)	rs2092584005

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