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Results: 6

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
SLC22A5Renal carnitine transport defect, not providedGO-ESP:0.02360(T)
GMAF:0.01790(T)
Benign/Likely benign
(May 16, 2014)
classified by single submitter5132394243
2.
SLC22A5Renal carnitine transport defectnot provided
(Dec 4, 2012)
not classified by submitter5132390907 - 132390927
3.
SLC22A5Renal carnitine transport defectnot provided
(Dec 4, 2012)
not classified by submitter5132387065
4.
SLC22A5Renal carnitine transport defectnot provided
(Dec 4, 2012)
not classified by submitter5132387025
5.
SLC22A5Renal carnitine transport defectnot provided
(Dec 4, 2012)
not classified by submitter5132378442 - 132378443
6.
SLC22A5Renal carnitine transport defectPathogenic/Likely pathogenic
(Aug 7, 2012)
classified by single submitter5132369975

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