ClinVar Miner

List of variants in gene UBE3A reported as likely benign

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.-165+620T>G rs147834548 0.02184
NM_130839.5(UBE3A):c.-164-11055A>G rs148118528 0.01106
NM_130839.5(UBE3A):c.-298A>G rs184958207 0.01080
NM_130839.5(UBE3A):c.-165+10648T>A rs544747285 0.00449
NM_130839.5(UBE3A):c.-165+15G>C rs555020457 0.00005
GRCh37/hg19 15q11.2(chr15:25582762-25584107)x3
NM_130839.5(UBE3A):c.-165+15G>A rs555020457
NM_130839.5(UBE3A):c.-165+630del rs200950500

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