ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 39

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_003705.5(SLC25A12):c.*994C>T rs189758490 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_003705.5(SLC25A12):c.67-6T>A rs1302626614 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
NM_003705.4(SLC25A12):c.-67_-66GC[7] rs759200327
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met) rs201557997
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln) rs2105837625
NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys) rs1685033697

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