ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 20
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HGVS dbSNP
NM_130838.3(UBE3A):c.1693+12A>G rs368720379
NM_130838.3(UBE3A):c.1694-4A>G rs780429591
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) rs368318081
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser) rs147446244
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) rs587784510
NM_130839.5(UBE3A):c.1185A>T (p.Glu395Asp) rs114056442
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu) rs200380619
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro) rs374601913
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) rs587782915
NM_130839.5(UBE3A):c.659A>C (p.Asn220Thr) rs528422241
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148
NM_130839.5(UBE3A):c.900_912delinsC (p.Glu300_Pro304delinsAsp) rs797046089

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