ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=) rs1049764 0.00041
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885 0.00021
NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His) rs144190333 0.00014
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=) rs372827991 0.00009
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_001347721.2(DYRK1A):c.450C>T (p.Tyr150=) rs1049773 0.00004
NM_001347721.2(DYRK1A):c.1644+9G>A rs750741834 0.00003
NM_001347721.2(DYRK1A):c.1178C>G (p.Thr393Ser) rs777270510 0.00002
NM_001347721.2(DYRK1A):c.1971G>A (p.Ser657=) rs755724183 0.00002
NM_001347721.2(DYRK1A):c.2083G>A (p.Val695Ile) rs200597760 0.00002
NM_001347721.2(DYRK1A):c.1464C>T (p.Pro488=) rs541193560 0.00001
NM_001347721.2(DYRK1A):c.1644+18T>C rs755097100 0.00001
NM_001347721.2(DYRK1A):c.792G>C (p.Leu264=) rs2053042241 0.00001
NM_001347721.2(DYRK1A):c.1015G>T (p.Gly339Trp) rs2053152079
NM_001347721.2(DYRK1A):c.11-16394C>T
NM_001347721.2(DYRK1A):c.1183A>T (p.Asn395Tyr) rs2148627786
NM_001347721.2(DYRK1A):c.1212+1G>A rs2053266370
NM_001347721.2(DYRK1A):c.1286G>A (p.Arg429His) rs1379071994
NM_001347721.2(DYRK1A):c.1665T>C (p.Ala555=) rs1569404928
NM_001347721.2(DYRK1A):c.1800_1811del (p.His607_His610del) rs1569405356
NM_001347721.2(DYRK1A):c.1821CCA[5] (p.His610_Gly611insHisHis)
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.436T>A (p.Trp146Arg)
NM_001347721.2(DYRK1A):c.454A>G (p.Ile152Val)
NM_001347721.2(DYRK1A):c.474del (p.Gly159fs) rs2052612748
NM_001347721.2(DYRK1A):c.497dup (p.Ala167fs) rs2148600566
NM_001347721.2(DYRK1A):c.499G>T (p.Ala167Ser) rs2052870452
NM_001347721.2(DYRK1A):c.511G>A (p.Val171Met)
NM_001347721.2(DYRK1A):c.517C>G (p.Gln173Glu)
NM_001347721.2(DYRK1A):c.56C>T (p.Pro19Leu) rs1056885794
NM_001347721.2(DYRK1A):c.665G>A (p.Arg222Gln)
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.872G>A (p.Arg291His)
NM_001347721.2(DYRK1A):c.905C>A (p.Ser302Tyr)
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.964G>A (p.Glu322Lys)

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