ClinVar Miner

List of variants reported as pathogenic for Renal carnitine transport defect by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	rs72552732	0.00004
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)	rs386134210	0.00002
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)	rs1554086010

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