ClinVar Miner

List of variants in gene combination LOC126860131, RELN reported as benign for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_005045.4(RELN):c.1320A>G (p.Thr440=) rs376968265 0.00004
NM_005045.4(RELN):c.1290-12dup
NM_005045.4(RELN):c.1290-3del rs146986040
NM_005045.4(RELN):c.1290-3dup rs146986040

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