ClinVar Miner

List of variants studied for DYRK1A-related intellectual disability syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs) rs2053564046
NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs) rs2053566582
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461

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