ClinVar Miner

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

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
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.2499-34del rs564915971 0.00199
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.1753+1121C>A rs757526251 0.00097
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00094
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.1064G>C (p.Ser355Thr) rs141984760 0.00007
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.2592G>A (p.Thr864=) rs377110924 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.43G>A (p.Asp15Asn) rs755226524 0.00003
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725 0.00002
NM_130839.5(UBE3A):c.819A>G (p.Val273=) rs370294710 0.00002
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) rs751477028 0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.*22_*35del rs573271880
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=) rs2552191640
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) rs1460036615
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn) rs2552191482
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
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.2376T>C (p.His792=) rs2152515457
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.2419del (p.Thr807fs) rs2552182321
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu) rs2074497888
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val) rs2074492359
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs) rs2074302214
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) rs587784527
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=) rs2552181678
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) rs1064797196
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys) rs1417154910
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.438A>G (p.Leu146=)
NM_130839.5(UBE3A):c.645A>C (p.Ser215=) rs2552191758
NM_130839.5(UBE3A):c.675C>A (p.Gly225=) rs1595812490
NM_130839.5(UBE3A):c.858C>G (p.Ile286Met) rs61740972
NM_130839.5(UBE3A):c.933C>T (p.Ser311=) rs2552191678

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