ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 33
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HGVS dbSNP
NM_000462.5(UBE3A):c.*3_*7CAAAA[1] (p.Ter876=) rs587782926
NM_000462.5(UBE3A):c.*4A>G
NM_000462.5(UBE3A):c.-37+7T>C
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1776C>T (p.Tyr592=) rs139082033
NM_000462.5(UBE3A):c.2572_2575del (p.Leu858fs) rs398124440
NM_000462.5(UBE3A):c.2627A>G (p.Ter876=) rs76794400
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_001354550.2(UBE3A):c.361+3837_361+3838insTC rs786200996
NM_001354550.2(UBE3A):c.361+4898_361+4899delinsTGCTAGACAA rs398124438
NM_130838.1(UBE3A):c.3-14_3-7delAATGTTTG rs794727306
NM_130838.3(UBE3A):c.1125A>G (p.Glu375=) rs114056442
NM_130838.3(UBE3A):c.1177G>T (p.Glu393Ter) rs886043612
NM_130838.3(UBE3A):c.1278T>C (p.Phe426=) rs371154816
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1668G>A (p.Val556=) rs749731066
NM_130838.3(UBE3A):c.1713A>G (p.Glu571=) rs34670662
NM_130838.3(UBE3A):c.1762_1763del (p.Gln588fs) rs794727738
NM_130838.3(UBE3A):c.1873T>C (p.Phe625Leu) rs398124439
NM_130838.3(UBE3A):c.1905A>G (p.Leu635=) rs371296838
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.2074A>C (p.Asn692His) rs1555389918
NM_130838.3(UBE3A):c.2075A>G (p.Asn692Ser) rs916720140
NM_130838.3(UBE3A):c.2503_2508del (p.Leu835_Lys836del) rs863225070
NM_130838.3(UBE3A):c.2549G>A (p.Gly850Asp) rs587784528
NM_130838.3(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.3(UBE3A):c.307A>G (p.Thr103Ala) rs1211073576
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_130838.3(UBE3A):c.729C>T (p.Asn243=) rs1453409055
NM_130838.3(UBE3A):c.888_890del (p.Ala297del) rs398124441
NM_130838.3(UBE3A):c.972T>C (p.Ile324=) rs755119609

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