ClinVar Miner

List of variants reported for epileptic encephalopathy, early infanitle, 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00003
NM_139058.3(ARX):c.1281C>T (p.Asp427=) rs587783185 0.00002
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) rs587783188
NM_139058.3(ARX):c.1448G>A (p.Arg483Lys) rs587783190
NM_139058.3(ARX):c.1544del (p.Gly515fs) rs587783192
NM_139058.3(ARX):c.34G>T (p.Glu12Ter) rs587783200
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) rs587783203
NM_139058.3(ARX):c.651G>T (p.Ala217=) rs587783204
NM_139058.3(ARX):c.88G>T (p.Asp30Tyr) rs587783207
NM_139058.3(ARX):c.998C>G (p.Thr333Ser) rs104894745

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