ClinVar Miner

List of variants in gene combination KMT2C, LOC123956272 reported as likely benign for Kleefstra syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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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.1038G>A (p.Val346=)	rs770240292

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