ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) rs576963061 0.00013
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902 0.00006
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) rs755119609 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) rs759225128 0.00002
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317 0.00001
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=) rs774072376
NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp) rs769775137
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)
NM_130839.5(UBE3A):c.2169A>G (p.Val723=)
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) rs1566825584
NM_130839.5(UBE3A):c.2598C>T (p.Ala866=) rs748580495
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) rs1566962877
NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn)

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