ClinVar Miner

List of variants in gene combination RELN, SLC26A5 reported as pathogenic for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835

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