ClinVar Miner

List of variants in gene combination SNHG14, UBE3A studied for Inborn genetic diseases

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Total variants: 15
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NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) rs587781192
NM_130839.5(UBE3A):c.1230G>C (p.Leu410Phe) rs1480295793
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) rs1555403204
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs) rs1555400067
NM_130839.5(UBE3A):c.151_153del (p.Cys51del) rs1555403188
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) rs587781233
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553
NM_130839.5(UBE3A):c.2403_2405CTT[1] (p.Phe802del) rs1555380820
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) rs772952625

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