ClinVar Miner

List of variants reported as not provided for Renal carnitine transport defect by GenomeConnect - Invitae Patient Insights Network

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)	rs28383480	0.00039
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met)	rs148657753	0.00001

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