ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as benign for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.1960-277C>T rs34020669 0.12167
NM_130839.5(UBE3A):c.-164-5921T>A rs12899875 0.12156
NM_130839.5(UBE3A):c.2499-152T>C rs17115485 0.11928
NM_130839.5(UBE3A):c.2499-219A>G rs10047992 0.03189
NM_130839.5(UBE3A):c.20+251T>C rs116271705 0.03029
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_130839.5(UBE3A):c.*23C>A rs955490436 0.01841
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) rs576963061 0.00013
NM_130839.5(UBE3A):c.342C>T (p.Gly114=) rs142726511 0.00006
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.-100-317del rs34285975
NM_130839.5(UBE3A):c.1609-303_1609-302insCTAA rs3043907
NM_130839.5(UBE3A):c.21-55dup rs35086186
NM_130839.5(UBE3A):c.2125-259_2125-257del rs145678595
NM_130839.5(UBE3A):c.2281-40_2281-38del rs2066728
NM_130839.5(UBE3A):c.62+289_62+293del rs71127053
NM_130839.5(UBE3A):c.63-68_63-66del rs71418040
NM_130839.5(UBE3A):c.858C>A (p.Ile286=) rs61740972
NM_130839.5(UBE3A):c.870T>C (p.Asn290=) rs61740969
NM_130839.5(UBE3A):c.960A>G (p.Lys320=) rs2152821993

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