ClinVar Miner

List of variants in gene combination LOC126860130, RELN, SLC26A5 reported as benign for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005045.4(RELN):c.9447G>A (p.Ser3149=) rs770503009 0.00001
NM_005045.4(RELN):c.9444-10G>T rs575743816
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410

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