ClinVar Miner

List of variants studied for Early myoclonic encephalopathy by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) rs7124179 0.00013
NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=) rs556959164 0.00003
NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly) rs587784387 0.00001
NM_001191061.2(SLC25A22):c.*34A>G rs74994790
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) rs797045969

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