ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 74 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_198903.2:c.-61_889+60del
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys) rs749946230
NM_198904.4(GABRG2):c.416G>A (p.Ser139Asn) rs2113325887

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