ClinVar Miner

List of variants reported as likely pathogenic for DYRK1A-related intellectual disability syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (2):

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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.1837C>T (p.Gln613Ter)	rs1555994836
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs)	rs2052612564
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg)	rs2517988225

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