ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as likely benign by Invitae

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Total variants: 24
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HGVS dbSNP
NM_130838.3(UBE3A):c.2294+10T>C rs1555389575
NM_130838.3(UBE3A):c.2295-6_2295-5insTAAT rs1555380917
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=) rs1595808837
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) rs1057520481
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1273C>T (p.Leu425=) rs778060771
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) rs760283316
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=) rs138049263
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) rs878855201
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1770T>C (p.Asp590=) rs781556374
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=) rs1595601233
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725
NM_130839.5(UBE3A):c.1876C>T (p.Leu626=) rs376089007
NM_130839.5(UBE3A):c.2281-9A>G rs978341458
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902
NM_130839.5(UBE3A):c.2442G>A (p.Val814=) rs1595375310
NM_130839.5(UBE3A):c.291G>A (p.Ser97=) rs1411368065
NM_130839.5(UBE3A):c.362-10G>T rs1407383738
NM_130839.5(UBE3A):c.558T>C (p.Asp186=) rs1595814554
NM_130839.5(UBE3A):c.732C>T (p.Leu244=) rs1060504406
NM_130839.5(UBE3A):c.873A>G (p.Arg291=) rs1213980033
NM_130839.5(UBE3A):c.981A>G (p.Lys327=) rs1555400511

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