ClinVar Miner

List of variants studied for Kleefstra syndrome 2 by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.1042G>A (p.Asp348Asn) rs201834857 0.00013
NM_170606.3(KMT2C):c.1013-2A>G rs751158858

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