ClinVar Miner

List of variants reported as benign for Renal carnitine transport defect by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.652+77A>G rs274559 0.39418
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_003060.4(SLC22A5):c.1268-34A>G rs11568515 0.03088
NM_003060.4(SLC22A5):c.1587-38A>C rs11568523 0.03088
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.1268-38del rs11568517
NM_003060.4(SLC22A5):c.652+6= rs4551059

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