ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.1052A>G (p.Asn351Ser) rs747932207 0.00005
NM_130839.5(UBE3A):c.20+473G>A rs759994828 0.00005
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) rs751477028 0.00001
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn)
NM_130839.5(UBE3A):c.2147A>T (p.Asp716Val) rs2076978794
NM_130839.5(UBE3A):c.2155C>T (p.Leu719Phe) rs2076977707
NM_130839.5(UBE3A):c.2406C>A (p.Phe802Leu) rs2152515292
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu) rs2074497888
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys) rs1417154910
NM_130839.5(UBE3A):c.675C>A (p.Gly225=) rs1595812490
NM_130839.5(UBE3A):c.858C>G (p.Ile286Met)

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