ClinVar Miner

List of variants studied for DYRK1A-related intellectual disability syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1561G>A (p.Asp521Asn) rs1440750899 0.00001
NM_001347721.2(DYRK1A):c.1072-6A>G rs761086810
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter) rs2518073518
NM_001347721.2(DYRK1A):c.1615G>T (p.Ala539Ser) rs2518077490
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs) rs2148571595
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter) rs1555979164
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001347721.2(DYRK1A):c.868A>G (p.Lys290Glu) rs2518028565

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