ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by Ambry Genetics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) rs752711811 0.00003
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) rs751838524 0.00001
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553 0.00001
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) rs753429030 0.00001
NM_130839.5(UBE3A):c.1230G>C (p.Leu410Phe) rs1480295793
NM_130839.5(UBE3A):c.1271C>G (p.Pro424Arg) rs1566955976
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) rs1555403204
NM_130839.5(UBE3A):c.1322T>G (p.Ile441Ser)
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507
NM_130839.5(UBE3A):c.151_153del (p.Cys51del) rs1555403188
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) rs374601913
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.2446G>C (p.Gly816Arg) rs2074496673
NM_130839.5(UBE3A):c.2516C>T (p.Thr839Ile)
NM_130839.5(UBE3A):c.2527G>A (p.Val843Met)
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) rs772952625
NM_130839.5(UBE3A):c.4G>T (p.Ala2Ser)
NM_130839.5(UBE3A):c.886C>G (p.Pro296Ala)
NM_130839.5(UBE3A):c.977C>G (p.Ser326Cys)

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