ClinVar Miner

List of variants in gene KMT2C reported as pathogenic for Kleefstra syndrome 2

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.10266_10267del (p.Arg3423fs)
NM_170606.3(KMT2C):c.103del (p.Arg35fs)
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)
NM_170606.3(KMT2C):c.10812_10815del (p.Lys3605fs) rs1554477105
NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter) rs2091742405
NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.1759_1769del (p.Gln587fs)
NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs) rs1588573059
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs) rs1588571802
NM_170606.3(KMT2C):c.2532+1del rs2129163740
NM_170606.3(KMT2C):c.2829_2832dup (p.Val945fs)
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.4845G>A (p.Trp1615Ter)
NM_170606.3(KMT2C):c.5216del (p.Pro1739fs) rs1554505381
NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter) rs2129121010
NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)
NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs)
NM_170606.3(KMT2C):c.6938_6939del (p.Phe2313fs) rs2129119362
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170606.3(KMT2C):c.8543del (p.Asn2848fs) rs2093235396
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)

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