ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
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.1705G>A (p.Asp569Asn) rs200641225
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.5(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.5(PLEKHG5):c.813G>A (p.Glu271=) rs777414805
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.6(PLEKHG5):c.-88+6188G>A
NM_020631.6(PLEKHG5):c.-88+6328C>T
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=)
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=)
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)

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