ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1112del (p.Pro371fs) rs2148627581
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter) rs1555987107
NM_001347721.2(DYRK1A):c.1743dup (p.Val582fs) rs2148662184
NM_001347721.2(DYRK1A):c.638-9_638-5del

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