ClinVar Miner

List of variants reported for Renal carnitine transport defect by Pars Genome Lab

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Total variants: 9
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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.*47C>T rs1045020 0.09512
NM_003060.4(SLC22A5):c.394-296C>T rs2073642 0.07739
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.652+6= rs4551059

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