ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic for Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	rs724159949
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)	rs724159950

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