ClinVar Miner

List of variants reported as pathogenic for DYRK1A-related intellectual disability syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)	rs2518048199
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)	rs797044519
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)	rs2518027869

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