ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 16 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys) rs1600082188
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982

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