ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln) rs765813410 0.00001
NM_130839.5(UBE3A):c.1471T>G (p.Tyr491Asp) rs1555399980
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp) rs1057517876
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1696G>T (p.Gly566Cys)
NM_130839.5(UBE3A):c.1767del (p.Thr588_Tyr589insTer) rs2152701181
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.2125-1G>A rs1064795001
NM_130839.5(UBE3A):c.2391del (p.Glu797fs) rs1595376260
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu) rs1595375255
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val) rs2074492359
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser) rs868694099
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) rs1064797196
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del) rs2074282420
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) rs587782907
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) rs587780577
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly) rs1057524508

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