ClinVar Miner

Variants in gene DYRK1A with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_001347721.2(DYRK1A):c.1644+73C>A rs200322053 0.00068
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833 0.00050
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=) rs1049764 0.00041
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885 0.00021
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450 0.00010
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro) rs149948846 0.00005

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