ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by Eurofins NTD LLC (GA)

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) rs114056442 0.00599
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.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_130839.5(UBE3A):c.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) rs755119609 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) rs916720140 0.00002
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.20+7T>C rs771812460 0.00001
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter) rs886043612
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs) rs398124438
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs) rs794727738
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu) rs398124439
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His) rs1555389918
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) rs1211073576
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs) rs786200996
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) rs587780577
NM_130839.5(UBE3A):c.63-14_63-7del rs794727306
NM_130839.5(UBE3A):c.948_950del (p.Ala317del) rs398124441

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