ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic by Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center

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Total variants: 7
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NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) rs724159956
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs) rs724159950
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs) rs724159954
NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs) rs724159952

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