ClinVar Miner

List of variants reported as pathogenic for DYRK1A-related intellectual disability syndrome by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) rs797044522
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949

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