ClinVar Miner

List of variants in gene PDLIM3 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) rs143812960 0.00016
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu) rs201185673 0.00014
NM_014476.6(PDLIM3):c.677C>T (p.Ser226Leu) rs747243505 0.00006
NM_014476.6(PDLIM3):c.928G>A (p.Asp310Asn) rs146092339 0.00006
NM_014476.6(PDLIM3):c.530A>C (p.Glu177Ala) rs138115202 0.00005
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) rs781358846 0.00004
NM_014476.6(PDLIM3):c.749C>T (p.Ser250Leu) rs781084216 0.00004
NM_014476.6(PDLIM3):c.955G>A (p.Val319Met) rs756047162 0.00004
NM_014476.6(PDLIM3):c.1033G>A (p.Ala345Thr) rs373408599 0.00003
NM_014476.6(PDLIM3):c.1037G>A (p.Arg346Lys) rs762986959 0.00003
NM_014476.6(PDLIM3):c.439C>T (p.Arg147Cys) rs769851440 0.00003
NM_014476.6(PDLIM3):c.440G>A (p.Arg147His) rs528843301 0.00003
NM_014476.6(PDLIM3):c.938G>A (p.Arg313Gln) rs755255012 0.00002
NM_014476.6(PDLIM3):c.1070C>T (p.Thr357Met) rs775841507 0.00001
NM_014476.6(PDLIM3):c.113C>T (p.Ala38Val) rs182803361 0.00001
NM_014476.6(PDLIM3):c.262T>C (p.Trp88Arg) rs1561200671 0.00001
NM_014476.6(PDLIM3):c.743G>A (p.Arg248His) rs377158204 0.00001
NM_014476.6(PDLIM3):c.778G>A (p.Val260Met) rs878854983 0.00001
NM_014476.6(PDLIM3):c.799C>T (p.Arg267Cys) rs373419233 0.00001
NM_014476.6(PDLIM3):c.895A>C (p.Ser299Arg) rs1034968896 0.00001
NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln) rs200273032 0.00001
NM_014476.6(PDLIM3):c.1004T>C (p.Ile335Thr)
NM_014476.6(PDLIM3):c.119C>T (p.Ala40Val)
NM_014476.6(PDLIM3):c.127C>G (p.Leu43Val)
NM_014476.6(PDLIM3):c.14T>C (p.Val5Ala)
NM_014476.6(PDLIM3):c.190G>T (p.Asp64Tyr)
NM_014476.6(PDLIM3):c.222C>G (p.His74Gln)
NM_014476.6(PDLIM3):c.241G>T (p.Asp81Tyr)
NM_014476.6(PDLIM3):c.243C>G (p.Asp81Glu)
NM_014476.6(PDLIM3):c.269C>T (p.Pro90Leu)
NM_014476.6(PDLIM3):c.298C>T (p.Pro100Ser)
NM_014476.6(PDLIM3):c.47G>A (p.Arg16Lys)
NM_014476.6(PDLIM3):c.485G>A (p.Gly162Asp)
NM_014476.6(PDLIM3):c.499G>T (p.Ala167Ser)
NM_014476.6(PDLIM3):c.503C>T (p.Ala168Val)
NM_014476.6(PDLIM3):c.520A>G (p.Ile174Val)
NM_014476.6(PDLIM3):c.581T>C (p.Met194Thr)
NM_014476.6(PDLIM3):c.61A>G (p.Ile21Val)
NM_014476.6(PDLIM3):c.628G>T (p.Val210Phe)
NM_014476.6(PDLIM3):c.644G>A (p.Gly215Glu)
NM_014476.6(PDLIM3):c.657G>T (p.Leu219Phe) rs1561192175
NM_014476.6(PDLIM3):c.659T>A (p.Met220Lys) rs375743721
NM_014476.6(PDLIM3):c.667C>G (p.Pro223Ala)
NM_014476.6(PDLIM3):c.690G>T (p.Glu230Asp)
NM_014476.6(PDLIM3):c.696C>G (p.Asp232Glu) rs148256486
NM_014476.6(PDLIM3):c.722G>A (p.Arg241Gln)
NM_014476.6(PDLIM3):c.731C>A (p.Pro244His)
NM_014476.6(PDLIM3):c.759C>G (p.Phe253Leu)
NM_014476.6(PDLIM3):c.766C>T (p.Leu256Phe)
NM_014476.6(PDLIM3):c.779T>G (p.Val260Gly) rs1554037747
NM_014476.6(PDLIM3):c.784G>A (p.Asp262Asn)
NM_014476.6(PDLIM3):c.814C>T (p.Arg272Trp)
NM_014476.6(PDLIM3):c.830C>T (p.Pro277Leu)
NM_014476.6(PDLIM3):c.851G>A (p.Gly284Asp)
NM_014476.6(PDLIM3):c.856G>A (p.Gly286Ser)
NM_014476.6(PDLIM3):c.875C>G (p.Pro292Arg) rs200921332
NM_014476.6(PDLIM3):c.875C>T (p.Pro292Leu)
NM_014476.6(PDLIM3):c.904G>A (p.Val302Ile)
NM_014476.6(PDLIM3):c.911C>G (p.Ala304Gly)
NM_014476.6(PDLIM3):c.91A>G (p.Arg31Gly)
NM_014476.6(PDLIM3):c.943C>A (p.Pro315Thr)
NM_014476.6(PDLIM3):c.944C>A (p.Pro315His)
NM_014476.6(PDLIM3):c.946G>A (p.Glu316Lys)
NM_014476.6(PDLIM3):c.949T>C (p.Cys317Arg)
NM_014476.6(PDLIM3):c.979C>G (p.Leu327Val)
NM_014476.6(PDLIM3):c.983A>G (p.Lys328Arg)
NM_014476.6(PDLIM3):c.990G>C (p.Lys330Asn)
NM_014476.6(PDLIM3):c.992G>T (p.Gly331Val) rs1060500600

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