ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 8
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.5(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230

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