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: 11
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HGVS dbSNP
NC_000021.8:g.(?_38792657)_(38884854_?)del
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
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.311dup (p.Tyr104Ter) rs1555979158
NM_001396.4(DYRK1A):c.951+4_951+7del rs1555984461

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