ClinVar Miner

List of variants studied for Familial temporal lobe epilepsy 7 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.2002+10T>C rs367840492 0.00006
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser) rs374941914 0.00006
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys) rs1165686675 0.00001
NM_005045.4(RELN):c.10280+7A>G rs764488118
NM_005045.4(RELN):c.3147-9C>G rs1831729606
NM_005045.4(RELN):c.3463dup (p.Leu1155fs) rs1831540987
NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg) rs1830541169
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062

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