List of variants in gene KMT2C, LOC123956272 studied for Kleefstra syndrome 2

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu)	rs138908625	0.00150
NM_170606.3(KMT2C):c.1042G>A (p.Asp348Asn)	rs201834857	0.00013
NM_170606.3(KMT2C):c.1013-2A>G	rs751158858
NM_170606.3(KMT2C):c.1038G>A (p.Val346=)	rs770240292
NM_170606.3(KMT2C):c.1106T>C (p.Met369Thr)

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