ClinVar Miner

List of variants studied for DYRK1A-related intellectual disability syndrome by Revvity Omics, Revvity

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.300+3A>G rs1241074832 0.00005
NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr) rs746978297 0.00001
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257 0.00001
NM_001347721.2(DYRK1A):c.300+7C>T rs537532878 0.00001
NM_001347721.2(DYRK1A):c.1071+1_1071+2dup rs2518038121
NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg) rs2518074007
NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro) rs2518074144
NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile) rs2518074755
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala) rs2053762752
NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val) rs2517958068
NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser) rs2518097366
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949

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