ClinVar Miner

List of variants studied for Kleefstra syndrome 2 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.4030A>G (p.Ile1344Val) rs945467133 0.00001
NM_170606.3(KMT2C):c.4382T>C (p.Ile1461Thr) rs1254246915 0.00001
NM_170606.3(KMT2C):c.10874C>T (p.Pro3625Leu) rs964546045

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