List of variants reported as pathogenic for Renal carnitine transport defect by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00052
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	rs72552732	0.00004
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003

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