ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as likely pathogenic

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Total variants: 30
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HGVS dbSNP
NC_000015.9:g.(?_25584264)_(25654274_?)dup
NM_000462.5(UBE3A):c.1705G>A (p.Gly569Ser) rs1555393242
NM_000462.5(UBE3A):c.1811_1813CTT[1] (p.Ser605del) rs587781234
NM_000462.5(UBE3A):c.2513_2525dup (p.Cys843fs) rs1057518777
NM_000462.5(UBE3A):c.2544_2547del (p.Leu848fs) rs863224940
NM_000462.5(UBE3A):c.2572_2577del (p.Leu858_Lys859del) rs863225070
NM_000462.5(UBE3A):c.2605del (p.Ala869fs) rs1064797196
NM_001354550.2(UBE3A):c.361+3739_361+3750del rs587784531
NM_130838.3(UBE3A):c.1304T>C (p.Leu435Pro) rs587781242
NM_130838.3(UBE3A):c.139A>G (p.Ile47Val) rs587783146
NM_130838.3(UBE3A):c.1420A>G (p.Asn474Asp) rs1057517876
NM_130838.3(UBE3A):c.1430G>C (p.Arg477Pro) rs587781243
NM_130838.3(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.3(UBE3A):c.1517G>A (p.Arg506His) rs1064795012
NM_130838.3(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.3(UBE3A):c.1634G>A (p.Gly545Glu) rs587784516
NM_130838.3(UBE3A):c.1688A>G (p.Asp563Gly) rs587784518
NM_130838.3(UBE3A):c.1697T>A (p.Met566Lys) rs587781244
NM_130838.3(UBE3A):c.1763A>G (p.Gln588Arg) rs587782919
NM_130838.3(UBE3A):c.2065-1G>A rs1064795001
NM_130838.3(UBE3A):c.2459G>C (p.Cys820Ser) rs868694099
NM_130838.3(UBE3A):c.2480C>T (p.Pro827Leu) rs587781239
NM_130838.3(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.3(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.3(UBE3A):c.317C>A (p.Thr106Lys) rs587781241
NM_130838.3(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.3(UBE3A):c.710T>A (p.Leu237His) rs587780582
NM_130838.3(UBE3A):c.794T>C (p.Ile265Thr) rs1566959617
NM_130838.3(UBE3A):c.866C>G (p.Ala289Gly) rs1057524508
NM_130838.3(UBE3A):c.947T>C (p.Met316Thr) rs863225071

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