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: 14
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083 0.00001
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_198681.4(PLEKHG5):c.-120C>T rs201669114

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