ClinVar Miner

List of variants in gene UBE3A reported as benign by GeneDx

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.-165+5542A>G rs12901086 0.12189
NM_130839.5(UBE3A):c.-165+10455T>C rs75309989 0.04798
NM_130839.5(UBE3A):c.-165+5805C>T rs35654404 0.04158
NM_130839.5(UBE3A):c.-165+630T>C rs77631699 0.03281
NM_130839.5(UBE3A):c.-176G>A rs1387668329 0.00001
NM_130839.5(UBE3A):c.-164-10842del rs71418043
NM_130839.5(UBE3A):c.-164-10858dup rs71418043
NM_130839.5(UBE3A):c.-165+10692_-165+10693del rs71127058
NM_130839.5(UBE3A):c.-165+10693del rs71127058
NM_130839.5(UBE3A):c.-165+631dup rs571132075

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