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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HGVS dbSNP
NM_130838.1(UBE3A):c.1201C>T (p.Arg401Ter) rs587781196
NM_130838.1(UBE3A):c.1254_1342del89 (p.Lys418Asnfs) rs1555400067
NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.1(UBE3A):c.1811_1812delGT (p.Cys604Tyrfs) rs864309508
NM_130838.1(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.1(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs) rs587784527
NM_130838.1(UBE3A):c.972_978delTACTTAT (p.Thr325Lysfs) rs587781192
NM_130838.2(UBE3A):c.1170G>C (p.Leu390Phe) rs1480295793
NM_130838.2(UBE3A):c.1722delA (p.Lys574Asnfs) rs1555391286
NM_130838.2(UBE3A):c.218A>C (p.Tyr73Ser) rs772952625
NM_130838.2(UBE3A):c.2346_2348delCTT (p.Phe782del) rs1555380820
NM_130838.2(UBE3A):c.70G>A (p.Glu24Lys) rs1555403204
NM_130838.2(UBE3A):c.91_93delTGT (p.Cys31del) rs1555403188

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