ClinVar Miner

List of variants reported as pathogenic for DYRK1A-related intellectual disability syndrome by Invitae

Included ClinVar conditions (2):
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_38792657)_(38884854_?)del
NC_000021.8:g.(?_38844966)_(38845202_?)del
NC_000021.8:g.(?_38844966)_(38884854_?)del
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs) rs1064794894
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter) rs1555985742
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter) rs1555987107
NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter) rs2148627691
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs) rs2148627802
NM_001347721.2(DYRK1A):c.1191_1192insTT (p.Lys398fs)
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1213-3C>G
NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)
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.1378C>T (p.Gln460Ter) rs1555990955
NM_001347721.2(DYRK1A):c.1476del (p.Gln492fs)
NM_001347721.2(DYRK1A):c.1583del (p.His528fs) rs1601319086
NM_001347721.2(DYRK1A):c.1587_1588dup (p.Gly530fs)
NM_001347721.2(DYRK1A):c.1699C>T (p.Gln567Ter) rs1555994573
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
NM_001347721.2(DYRK1A):c.2014del (p.Gln672fs)
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs) rs1569355102
NM_001347721.2(DYRK1A):c.210dup (p.Arg71fs) rs2148571400
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001347721.2(DYRK1A):c.267_268dup (p.Asp90fs) rs2148571670
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter) rs1555979158
NM_001347721.2(DYRK1A):c.293_294dup (p.Asn99fs) rs2148571757
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter) rs1555980223
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter) rs1049773
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg) rs1555980467
NM_001347721.2(DYRK1A):c.490-3T>G
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) rs1569370887
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs) rs1555982601
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.618_619dup (p.Glu207fs)
NM_001347721.2(DYRK1A):c.625A>T (p.Lys209Ter)
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) rs746177928
NM_001347721.2(DYRK1A):c.637+2T>C rs1569371303
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.640dup (p.His214fs)
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.748_749del (p.Leu250fs) rs2148612654
NM_001347721.2(DYRK1A):c.763A>T (p.Lys255Ter) rs1555984237
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.833A>G (p.Asp278Gly) rs1555984343
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.930C>A (p.Tyr310Ter)
NM_001347721.2(DYRK1A):c.930C>G (p.Tyr310Ter)
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter) rs1555985532
NM_001347721.2(DYRK1A):c.985dup (p.Tyr329fs)
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter) rs886041658

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