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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:131728197
GRCh38:
Chr5:132392505
SLC22A5Renal carnitine transport defect, not providedPathogenic/Likely pathogenic
(Mar 7, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr5:131705747
GRCh38:
Chr5:132370055
SLC22A5Renal carnitine transport defectnot providedno assertion provided
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