ClinVar Miner

List of variants in gene DYRK1A studied for Mental retardation, autosomal dominant 7

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Gene type:
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Total variants: 173
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HGVS dbSNP
NC_000021.7:g.37796500_37849000del
NC_000021.8:g.(?_38791602)_(38888679_?)dup
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.(?_37492997)_(37493183_?)del
NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val) rs1601280230
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347721.2(DYRK1A):c.1011C>G (p.Ser337=) rs1555985655
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter) rs1555985742
NM_001347721.2(DYRK1A):c.1071+1G>A rs587776930
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) rs797044522
NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs) rs797045042
NM_001347721.2(DYRK1A):c.1178C>G (p.Thr393Ser) rs777270510
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1213-7C>T rs199867876
NM_001347721.2(DYRK1A):c.1215G>C (p.Glu405Asp) rs369805539
NM_001347721.2(DYRK1A):c.1229G>C (p.Gly410Ala) rs978604744
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)
NM_001347721.2(DYRK1A):c.1250T>G (p.Ile417Ser)
NM_001347721.2(DYRK1A):c.1260G>A (p.Val420=) rs139043513
NM_001347721.2(DYRK1A):c.1264A>G (p.Thr422Ala) rs1459549692
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs) rs797045539
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.1286G>A (p.Arg429His)
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His) rs750600368
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
NM_001347721.2(DYRK1A):c.1311C>T (p.Val437=) rs149417608
NM_001347721.2(DYRK1A):c.1331A>G (p.Lys444Arg)
NM_001347721.2(DYRK1A):c.1363C>G (p.Pro455Ala)
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.1380A>G (p.Gln460=)
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596
NM_001347721.2(DYRK1A):c.138A>T (p.Pro46=) rs1049759
NM_001347721.2(DYRK1A):c.139A>G (p.Asn47Asp) rs1569354907
NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs) rs587776929
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) rs1057519628
NM_001347721.2(DYRK1A):c.1488G>A (p.Ser496=) rs767630443
NM_001347721.2(DYRK1A):c.1510T>A (p.Ser504Thr) rs1447174732
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.1560G>A (p.Ser520=) rs778482688
NM_001347721.2(DYRK1A):c.1568C>T (p.Thr523Met) rs148756105
NM_001347721.2(DYRK1A):c.1575G>A (p.Gln525=) rs1555991440
NM_001347721.2(DYRK1A):c.1583del (p.His528fs) rs1601319086
NM_001347721.2(DYRK1A):c.1588G>A (p.Gly530Ser)
NM_001347721.2(DYRK1A):c.1594C>T (p.His532Tyr) rs1555991472
NM_001347721.2(DYRK1A):c.1608C>T (p.Ala536=) rs151236032
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met)
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.1613A>G (p.Gln538Arg)
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala) rs759183785
NM_001347721.2(DYRK1A):c.1631_1632CA[2] (p.His545fs) rs1601319352
NM_001347721.2(DYRK1A):c.1634A>C (p.His545Pro)
NM_001347721.2(DYRK1A):c.1636A>T (p.Ser546Cys)
NM_001347721.2(DYRK1A):c.1639C>T (p.Pro547Ser)
NM_001347721.2(DYRK1A):c.1645-7C>A
NM_001347721.2(DYRK1A):c.1645-7C>T rs1198926046
NM_001347721.2(DYRK1A):c.1685C>T (p.Thr562Ile) rs746617310
NM_001347721.2(DYRK1A):c.169T>C (p.Ser57Pro) rs1049763
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu) rs771373401
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala) rs774075762
NM_001347721.2(DYRK1A):c.1712A>G (p.Glu571Gly) rs1601334526
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro) rs149948846
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys)
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105
NM_001347721.2(DYRK1A):c.1763C>T (p.Ala588Val)
NM_001347721.2(DYRK1A):c.1767G>A (p.Leu589=) rs1555994711
NM_001347721.2(DYRK1A):c.1778A>T (p.His593Leu)
NM_001347721.2(DYRK1A):c.1783A>G (p.Asn595Asp)
NM_001347721.2(DYRK1A):c.1800T>C (p.His600=) rs867610020
NM_001347721.2(DYRK1A):c.1803_1805CCA[1] (p.His607_His610del) rs760576043
NM_001347721.2(DYRK1A):c.1803_1805CCA[4] (p.His610del) rs760576043
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.1807_1818CACCACCACCAT[1] (p.His607_His610del) rs752377554
NM_001347721.2(DYRK1A):c.1812_1829del (p.His605_His610del)
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=) rs372827991
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp)
NM_001347721.2(DYRK1A):c.1871A>T (p.Tyr624Phe) rs147650865
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236
NM_001347721.2(DYRK1A):c.1925G>A (p.Ser642Asn)
NM_001347721.2(DYRK1A):c.1968C>T (p.Ser656=) rs752369735
NM_001347721.2(DYRK1A):c.1970C>T (p.Ser657Leu)
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.19A>G (p.Thr7Ala)
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.2020C>T (p.Arg674Cys) rs201554841
NM_001347721.2(DYRK1A):c.2031T>C (p.Ala677=) rs1376891560
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=) rs375130004
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001347721.2(DYRK1A):c.208-34A>G rs201001986
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala)
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=) rs372748919
NM_001347721.2(DYRK1A):c.2087A>T (p.Tyr696Phe)
NM_001347721.2(DYRK1A):c.2093A>G (p.Asn698Ser) rs151303959
NM_001347721.2(DYRK1A):c.2098C>T (p.Arg700Cys) rs781697806
NM_001347721.2(DYRK1A):c.2099G>A (p.Arg700His)
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala)
NM_001347721.2(DYRK1A):c.2136A>G (p.Gln712=) rs771939851
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val) rs1601336491
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly)
NM_001347721.2(DYRK1A):c.2145T>C (p.Ala715=) rs1173777263
NM_001347721.2(DYRK1A):c.2150C>G (p.Thr717Arg) rs1317673533
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.2216C>T (p.Ser739Phe) rs887440216
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser) rs147973077
NM_001347721.2(DYRK1A):c.2261C>T (p.Ser754Leu)
NM_001347721.2(DYRK1A):c.227T>G (p.Phe76Cys) rs1601219318
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=) rs1049764
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001347721.2(DYRK1A):c.267T>G (p.Val89=) rs1049767
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs) rs1057519402
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter) rs1555979158
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.300+3A>G
NM_001347721.2(DYRK1A):c.300+5G>A
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.333A>G (p.Gln111=) rs370463929
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) rs1555980234
NM_001347721.2(DYRK1A):c.348C>T (p.Asp116=) rs150200258
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn) rs991834315
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile)
NM_001347721.2(DYRK1A):c.380A>G (p.Tyr127Cys)
NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser) rs1601230964
NM_001347721.2(DYRK1A):c.407A>G (p.Tyr136Cys)
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile)
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter)
NM_001347721.2(DYRK1A):c.450C>T (p.Tyr150=) rs1049773
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg) rs1555980467
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536
NM_001347721.2(DYRK1A):c.493G>A (p.Val165Ile)
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) rs1569370887
NM_001347721.2(DYRK1A):c.508C>T (p.Arg170Cys)
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile) rs797044524
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.587G>A (p.Arg196Gln)
NM_001347721.2(DYRK1A):c.637+2T>C rs1569371303
NM_001347721.2(DYRK1A):c.638-3C>T rs779620187
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.673_674CT[1] (p.Cys226fs) rs1601267617
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.78T>A (p.Ala26=)
NM_001347721.2(DYRK1A):c.803C>T (p.Ala268Val)
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn) rs758888181
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) rs1555984343
NM_001347721.2(DYRK1A):c.855T>C (p.Leu285=) rs781455449
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val) rs762466544
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe) rs1039571136
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter) rs1555984433
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys) rs1555985554

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