ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1015G>T (p.Gly339Trp) rs2053152079
NM_001347721.2(DYRK1A):c.1212+1G>A rs2053266370
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.474del (p.Gly159fs) rs2052612748
NM_001347721.2(DYRK1A):c.497dup (p.Ala167fs) rs2148600566
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.905C>A (p.Ser302Tyr)
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461

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