ClinVar Miner

List of variants studied for DYRK1A-related intellectual disability syndrome

Included ClinVar conditions (2):
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Total variants: 112
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HGVS dbSNP
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)
NC_000021.7:g.37796500_37849000del
NC_000021.8:g.(?_38792657)_(38884854_?)del
NC_000021.8:g.(?_38792657)_(38884854_?)dup
NC_000021.8:g.(?_38868400)_(38884854_?)del
NC_000021.9:g.37490210_37490211CT[1]
NC_000021.9:g.37490462_37490465del
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) rs797044522
NM_001347721.2(DYRK1A):c.1213-2A>G
NM_001347721.2(DYRK1A):c.1213-7C>T rs199867876
NM_001347721.2(DYRK1A):c.1215G>C (p.Glu405Asp)
NM_001347721.2(DYRK1A):c.1229G>C (p.Gly410Ala)
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys) rs367984873
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His)
NM_001347721.2(DYRK1A):c.1311C>T (p.Val437=) rs149417608
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596
NM_001347721.2(DYRK1A):c.139A>G (p.Asn47Asp) rs1569354907
NM_001347721.2(DYRK1A):c.1527A>G (p.Ser509=) rs1569398234
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.1685C>T (p.Thr562Ile)
NM_001347721.2(DYRK1A):c.169T>C (p.Ser57Pro)
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
NM_001347721.2(DYRK1A):c.1712A>G (p.Glu571Gly)
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001347721.2(DYRK1A):c.1800T>C (p.His600=) rs867610020
NM_001347721.2(DYRK1A):c.1803_1805CCA[6] (p.His610dup) rs760576043
NM_001347721.2(DYRK1A):c.1803_1805CCA[7] (p.His609_His610dup) rs760576043
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=) rs372827991
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236
NM_001347721.2(DYRK1A):c.197_200TAAC[1] (p.Asn68fs) rs1569355102
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His) rs756785454
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=) rs375130004
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=) rs372748919
NM_001347721.2(DYRK1A):c.2098C>T (p.Arg700Cys)
NM_001347721.2(DYRK1A):c.212G>T (p.Arg71Leu)
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser) rs147973077
NM_001347721.2(DYRK1A):c.227T>G (p.Phe76Cys)
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=) rs1049764
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) rs1555980234
NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser)
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg)
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) rs1569370887
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile) rs797044524
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.637+2T>C rs1569371303
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001396.4(DYRK1A):c.1038C>G (p.Ser346=) rs1555985655
NM_001396.4(DYRK1A):c.1098+1G>A rs587776930
NM_001396.4(DYRK1A):c.11-9T>G rs1555976923
NM_001396.4(DYRK1A):c.1162dup (p.Ala388fs) rs797045042
NM_001396.4(DYRK1A):c.1205C>G (p.Thr402Ser) rs777270510
NM_001396.4(DYRK1A):c.1287G>A (p.Val429=) rs139043513
NM_001396.4(DYRK1A):c.1298_1299insT (p.Pro434fs) rs797045539
NM_001396.4(DYRK1A):c.138A>T (p.Pro46=) rs1049759
NM_001396.4(DYRK1A):c.143_144del (p.Ile48fs) rs587776929
NM_001396.4(DYRK1A):c.1457G>A (p.Gly486Asp) rs1555991030
NM_001396.4(DYRK1A):c.1491del (p.Ala498fs) rs1057519628
NM_001396.4(DYRK1A):c.1537T>A (p.Ser513Thr) rs1447174732
NM_001396.4(DYRK1A):c.1587G>A (p.Ser529=) rs778482688
NM_001396.4(DYRK1A):c.1595C>T (p.Thr532Met) rs148756105
NM_001396.4(DYRK1A):c.1602G>A (p.Gln534=) rs1555991440
NM_001396.4(DYRK1A):c.1610del (p.His537fs)
NM_001396.4(DYRK1A):c.1621C>T (p.His541Tyr) rs1555991472
NM_001396.4(DYRK1A):c.1635C>T (p.Ala545=) rs151236032
NM_001396.4(DYRK1A):c.1657A>G (p.Thr553Ala) rs759183785
NM_001396.4(DYRK1A):c.1672-7C>T rs1198926046
NM_001396.4(DYRK1A):c.1729G>C (p.Val577Leu) rs771373401
NM_001396.4(DYRK1A):c.1762A>C (p.Thr588Pro) rs149948846
NM_001396.4(DYRK1A):c.1789G>A (p.Ala597Thr) rs200808105
NM_001396.4(DYRK1A):c.1794G>A (p.Leu598=) rs1555994711
NM_001396.4(DYRK1A):c.2120A>G (p.Asn707Ser) rs151303959
NM_001396.4(DYRK1A):c.2172T>C (p.Ala724=) rs1173777263
NM_001396.4(DYRK1A):c.2177C>G (p.Thr726Arg) rs1317673533
NM_001396.4(DYRK1A):c.2243C>T (p.Ser748Phe) rs887440216
NM_001396.4(DYRK1A):c.290_291del (p.Ser97fs) rs1064793546
NM_001396.4(DYRK1A):c.297_301del (p.Leu100fs) rs1057519402
NM_001396.4(DYRK1A):c.311dup (p.Tyr104Ter) rs1555979158
NM_001396.4(DYRK1A):c.349C>T (p.Arg117Ter) rs1057518204
NM_001396.4(DYRK1A):c.354A>G (p.Arg118=) rs760666489
NM_001396.4(DYRK1A):c.360A>G (p.Gln120=) rs370463929
NM_001396.4(DYRK1A):c.375C>T (p.Asp125=) rs150200258
NM_001396.4(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001396.4(DYRK1A):c.665-3C>T rs779620187
NM_001396.4(DYRK1A):c.845G>A (p.Ser282Asn) rs758888181
NM_001396.4(DYRK1A):c.860A>T (p.Asp287Val) rs1555984343
NM_001396.4(DYRK1A):c.932C>T (p.Ser311Phe) rs1039571136
NM_001396.4(DYRK1A):c.937C>T (p.Gln313Ter) rs1555984433
NM_001396.4(DYRK1A):c.951+4_951+7del rs1555984461
NM_001396.4(DYRK1A):c.980A>G (p.Tyr327Cys) rs1555985554

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