ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by Baylor Genetics

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Total variants: 41
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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.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.2499-34del rs564915971 0.00204
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.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.2281-42T>C rs543571933 0.00064
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.1753+32G>A rs373746667 0.00006
NM_130839.5(UBE3A):c.2499-37dup rs587782913 0.00006
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.361+30G>A rs367646993 0.00003
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) rs587783148 0.00001
NM_130839.5(UBE3A):c.361+29T>C rs587782914 0.00001
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922 0.00001
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.*46del rs368425414
NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile) rs587782916
NM_130839.5(UBE3A):c.1608+34T>C rs587782917
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del) rs587782909
NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu) rs587782918
NM_130839.5(UBE3A):c.1823A>C (p.Gln608Pro) rs587782919
NM_130839.5(UBE3A):c.2078T>G (p.Leu693Arg) rs587782920
NM_130839.5(UBE3A):c.2091T>C (p.Gly697=) rs587782924
NM_130839.5(UBE3A):c.2124+19T>G rs587782925
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln) rs761011538
NM_130839.5(UBE3A):c.2354+20A>G rs587782911
NM_130839.5(UBE3A):c.2499-31T>G rs587782912
NM_130839.5(UBE3A):c.2499-40C>T rs373042168
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) rs587782907
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) rs587782915
NM_130839.5(UBE3A):c.62+20G>A rs587782906
NM_130839.5(UBE3A):c.63-19_63-17del rs587782921
NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr) rs587782908
NM_130839.5(UBE3A):c.915A>G (p.Leu305=) rs587782923

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