ClinVar Miner

List of variants in gene DYRK1A reported by Ambry Genetics

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596 0.00499
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.804G>A (p.Ala268=) rs138086853 0.00165
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833 0.00050
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=) rs1049764 0.00041
NM_001347721.2(DYRK1A):c.1871A>T (p.Tyr624Phe) rs147650865 0.00023
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885 0.00021
NM_001347721.2(DYRK1A):c.627A>G (p.Lys209=) rs1130754 0.00020
NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His) rs144190333 0.00014
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His) rs756785454 0.00014
NM_001347721.2(DYRK1A):c.333A>G (p.Gln111=) rs370463929 0.00014
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236 0.00011
NM_001347721.2(DYRK1A):c.1260G>A (p.Val420=) rs139043513 0.00009
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=) rs372827991 0.00009
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=) rs375130004 0.00008
NM_001347721.2(DYRK1A):c.348C>T (p.Asp116=) rs150200258 0.00008
NM_001347721.2(DYRK1A):c.1608C>T (p.Ala536=) rs151236032 0.00006
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly) rs143498500 0.00006
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro) rs149948846 0.00005
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala) rs759183785 0.00004
NM_001347721.2(DYRK1A):c.1685C>G (p.Thr562Ser) rs746617310 0.00004
NM_001347721.2(DYRK1A):c.2093A>G (p.Asn698Ser) rs151303959 0.00004
NM_001347721.2(DYRK1A):c.1380A>G (p.Gln460=) rs370029826 0.00003
NM_001347721.2(DYRK1A):c.1800T>C (p.His600=) rs867610020 0.00003
NM_001347721.2(DYRK1A):c.349G>A (p.Asp117Asn) rs959419590 0.00003
NM_001347721.2(DYRK1A):c.1311C>T (p.Val437=) rs149417608 0.00002
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser) rs757603372 0.00002
NM_001347721.2(DYRK1A):c.1105G>A (p.Gly369Ser) rs758421024 0.00001
NM_001347721.2(DYRK1A):c.1341T>C (p.Ile447=) rs763854430 0.00001
NM_001347721.2(DYRK1A):c.1403G>C (p.Ser468Thr) rs372217349 0.00001
NM_001347721.2(DYRK1A):c.1419A>G (p.Thr473=) rs1479713702 0.00001
NM_001347721.2(DYRK1A):c.1488G>A (p.Ser496=) rs767630443 0.00001
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp) rs1448604709 0.00001
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=) rs372748919 0.00001
NM_001347721.2(DYRK1A):c.2099G>A (p.Arg700His) rs374771208 0.00001
NM_001347721.2(DYRK1A):c.2189T>C (p.Met730Thr) rs764653772 0.00001
NM_001347721.2(DYRK1A):c.2261C>T (p.Ser754Leu) rs771118827 0.00001
NM_001347721.2(DYRK1A):c.66A>G (p.Ser22=) rs1178275452 0.00001
NM_001347721.2(DYRK1A):c.837A>G (p.Leu279=) rs755201558 0.00001
NM_001347721.2(DYRK1A):c.1003dup (p.Met335fs) rs1555985620
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1131C>T (p.Asp377=) rs1007150301
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)
NM_001347721.2(DYRK1A):c.121A>G (p.Ser41Gly) rs2052270177
NM_001347721.2(DYRK1A):c.1239del (p.Lys413fs) rs1555990751
NM_001347721.2(DYRK1A):c.1275dup (p.Gly426fs) rs1555990816
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.131G>A (p.Arg44His)
NM_001347721.2(DYRK1A):c.156G>A (p.Gln52=)
NM_001347721.2(DYRK1A):c.1626C>T (p.Cys542=)
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys) rs1041691170
NM_001347721.2(DYRK1A):c.1767G>A (p.Leu589=) rs1555994711
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del) rs760576043
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup) rs760576043
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
NM_001347721.2(DYRK1A):c.2145T>C (p.Ala715=) rs1173777263
NM_001347721.2(DYRK1A):c.2162A>G (p.His721Arg)
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val) rs201958918
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu) rs201958918
NM_001347721.2(DYRK1A):c.2219C>T (p.Pro740Leu) rs753226962
NM_001347721.2(DYRK1A):c.262del (p.Ser88fs)
NM_001347721.2(DYRK1A):c.290A>G (p.His97Arg)
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.399T>C (p.Asp133=) rs2052609245
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp) rs1064796406
NM_001347721.2(DYRK1A):c.489+2T>C rs2052613493
NM_001347721.2(DYRK1A):c.522A>G (p.Glu174=)
NM_001347721.2(DYRK1A):c.531_532dup (p.Ile178fs) rs1555982591
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.735C>T (p.Phe245=)
NM_001347721.2(DYRK1A):c.787G>T (p.Ala263Ser)
NM_001347721.2(DYRK1A):c.803del (p.Ala268fs) rs1555984304
NM_001347721.2(DYRK1A):c.821T>G (p.Ile274Ser)
NM_001347721.2(DYRK1A):c.842C>G (p.Pro281Arg) rs1555984358
NM_001347721.2(DYRK1A):c.886A>G (p.Ile296Val)
NM_001347721.2(DYRK1A):c.949T>G (p.Phe317Val)

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