List of variants reported as pathogenic for Renal carnitine transport defect by Giacomini Lab, University of California, San Francisco

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00114
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00052
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00010
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)	rs11568520	0.00005
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)	rs386134198	0.00001

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