ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) rs587782926

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