ClinVar Miner

Variants in gene combination SNHG14, UBE3A with conflicting interpretations reported as "uncertain significance and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751

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