ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic for Mental retardation, autosomal dominant 7

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Total variants: 33
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HGVS dbSNP
NC_000021.7:g.37796500_37849000del
NC_000021.8:g.(?_38792657)_(38884854_?)del
NC_000021.9:g.37490210_37490211CT[1]
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) rs797044522
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.197_200TAAC[1] (p.Asn68fs) rs1569355102
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.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.507dup (p.Arg170fs) rs1569370887
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.736C>T (p.Arg246Ter) rs724159948
NM_001396.4(DYRK1A):c.1098+1G>A rs587776930
NM_001396.4(DYRK1A):c.1162dup (p.Ala388fs) rs797045042
NM_001396.4(DYRK1A):c.1298_1299insT (p.Pro434fs) rs797045539
NM_001396.4(DYRK1A):c.143_144del (p.Ile48fs) rs587776929
NM_001396.4(DYRK1A):c.1491del (p.Ala498fs) rs1057519628
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.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

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