ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) rs587783147

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