ClinVar Miner

List of variants in gene RELN reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.3147-9C>G rs1831729606
NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg) rs1830541169
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523

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