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_130838.1(UBE3A):c.1109A>G (p.Asn370Ser) rs147446244
NM_130838.1(UBE3A):c.1116A>T (p.Glu372Asp) rs587784510
NM_130838.1(UBE3A):c.1125A>T (p.Glu375Asp) rs114056442
NM_130838.1(UBE3A):c.1132A>C (p.Ile378Leu) rs200380619
NM_130838.1(UBE3A):c.1212C>T (p.Pro404=) rs1057520392
NM_130838.1(UBE3A):c.1560C>T (p.Ile520=) rs1057523671
NM_130838.1(UBE3A):c.1682A>G (p.Asn561Ser) rs587784517
NM_130838.1(UBE3A):c.1693+12A>G rs368720379
NM_130838.1(UBE3A):c.1694-4A>G rs780429591
NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.1(UBE3A):c.1821T>C (p.Asp607=) rs587784522
NM_130838.1(UBE3A):c.1877G>C (p.Arg626Pro) rs374601913
NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.1(UBE3A):c.2549G>A (p.Gly850Asp) rs587784528
NM_130838.1(UBE3A):c.398T>G (p.Val133Gly) rs587782915
NM_130838.1(UBE3A):c.599A>C (p.Asn200Thr) rs528422241
NM_130838.1(UBE3A):c.611T>C (p.Leu204Ser) rs587782922
NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.1(UBE3A):c.840_852delAATGGCTTTGCCAinsC (p.Glu280_Pro284delinsAsp) rs797046089
NM_130838.1(UBE3A):c.949A>T (p.Met317Leu) rs368318081

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