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rs1057516797

From SNPedia

ClinVar
Risk rs1057516797(GCCGGAC;GCCGGAC)
Alt rs1057516797(GCCGGAC;GCCGGAC)
Reference Rs1057516797(-;-)
Significance Probable-Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131705824_131705830dupGACGCCG
CLNSRC
CLNACC RCV000409917.1,