List of variants in gene DYRK1A reported by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001347721.2(DYRK1A):c.1006del (p.Trp336fs)	rs2148619667
NM_001347721.2(DYRK1A):c.1173del (p.Asp391fs)	rs2053265002
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)	rs724159956
NM_001347721.2(DYRK1A):c.1243del (p.His415fs)	rs2148649530
NM_001347721.2(DYRK1A):c.1357T>C (p.Tyr453His)	rs2053566512
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)	rs797045041
NM_001347721.2(DYRK1A):c.1951del (p.Ser651fs)	rs2148662758
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)	rs1064793546
NM_001347721.2(DYRK1A):c.301-1G>T	rs2052604910
NM_001347721.2(DYRK1A):c.450del (p.Arg149_Tyr150insTer)	rs2148582538
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)	rs1064796406
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	rs724159949
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)	rs724159950
NM_001347721.2(DYRK1A):c.637+4A>T	rs2052877663
NM_001347721.2(DYRK1A):c.638-2A>G	rs1057518474
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	rs724159948
NM_001347721.2(DYRK1A):c.737G>A (p.Arg246Gln)	rs2148612639
NM_001347721.2(DYRK1A):c.755del (p.Leu252fs)	rs2053040180
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)	rs2148613074
NM_001347721.2(DYRK1A):c.909T>A (p.Cys303Ter)	rs1555984429
NM_001347721.2(DYRK1A):c.924+1G>C	rs2148613196
NM_001347721.2(DYRK1A):c.977del (p.Gly326fs)	rs2148619520

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