ClinVar Miner

List of variants in gene DYRK1A reported as uncertain significance for DYRK1A-related intellectual disability syndrome

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP
NC_000021.8:g.(?_38792657)_(38884854_?)dup
NC_000021.8:g.(?_38868400)_(38884854_?)del
NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) rs797044525
NM_001396.4(DYRK1A):c.1242G>C (p.Glu414Asp)
NM_001396.4(DYRK1A):c.139A>G (p.Asn47Asp)
NM_001396.4(DYRK1A):c.1457G>A (p.Gly486Asp) rs1555991030
NM_001396.4(DYRK1A):c.1537T>A (p.Ser513Thr) rs1447174732
NM_001396.4(DYRK1A):c.1554A>G (p.Ser518=)
NM_001396.4(DYRK1A):c.1587G>A (p.Ser529=) rs778482688
NM_001396.4(DYRK1A):c.1595C>T (p.Thr532Met) rs148756105
NM_001396.4(DYRK1A):c.1621C>T (p.His541Tyr) rs1555991472
NM_001396.4(DYRK1A):c.1657A>G (p.Thr553Ala) rs759183785
NM_001396.4(DYRK1A):c.1729G>C (p.Val577Leu) rs771373401
NM_001396.4(DYRK1A):c.1789G>A (p.Ala597Thr) rs200808105
NM_001396.4(DYRK1A):c.1839_1844dup (p.His619_Gly620insHisHis) rs760576043
NM_001396.4(DYRK1A):c.1842_1844dup (p.His619_Gly620insHis) rs760576043
NM_001396.4(DYRK1A):c.2025A>C (p.Gln675His) rs756785454
NM_001396.4(DYRK1A):c.2120A>G (p.Asn707Ser) rs151303959
NM_001396.4(DYRK1A):c.2177C>G (p.Thr726Arg) rs1317673533
NM_001396.4(DYRK1A):c.2243C>T (p.Ser748Phe) rs887440216
NM_001396.4(DYRK1A):c.2251A>T (p.Thr751Ser) rs147973077
NM_001396.4(DYRK1A):c.239G>T (p.Arg80Leu)
NM_001396.4(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001396.4(DYRK1A):c.665-3C>T rs779620187
NM_001396.4(DYRK1A):c.845G>A (p.Ser282Asn) rs758888181
NM_101395.2(DYRK1A):c.208-1G>A rs552103257

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