ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely 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
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148

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