ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
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.1249A>G (p.Met417Val) rs139775414 0.00365
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr) rs149730454 0.00056
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg) rs200290813 0.00003
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe) rs778716973 0.00002
NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn) rs765204844 0.00002
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu) rs758158685 0.00001
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile) rs1169005119 0.00001
NM_003060.4(SLC22A5):c.103A>G (p.Thr35Ala)
NM_003060.4(SLC22A5):c.1300G>C (p.Val434Leu)
NM_003060.4(SLC22A5):c.1609A>G (p.Ser537Gly)
NM_003060.4(SLC22A5):c.164C>T (p.Ala55Val)
NM_003060.4(SLC22A5):c.269C>T (p.Ala90Val)
NM_003060.4(SLC22A5):c.545G>T (p.Gly182Val)
NM_003060.4(SLC22A5):c.562A>G (p.Ile188Val)
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
NM_003060.4(SLC22A5):c.814G>C (p.Ala272Pro)
NM_003060.4(SLC22A5):c.934A>C (p.Ile312Leu)

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