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rs386134220

From SNPedia

ClinVar
Risk rs386134220(CA;CA)
Alt rs386134220(CA;CA)
Reference rs386134220(AGTCAGCTCCACAGCATC;AGTCAGCTCCACAGCATC)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728249_131728266del18insCA
CLNSRC ClinVar
CLNACC RCV000022378.2,