List of variants reported as pathogenic for Renal carnitine transport defect by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00010
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	rs144547521	0.00006
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)	rs11568520	0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	rs121908886	0.00005
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	rs72552732	0.00004
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)	rs121908891	0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)	rs386134210	0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00002
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	rs749282641	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003060.4(SLC22A5):c.652+1G>A	rs386134200	0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)	rs72552725	0.00001
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	rs386134223
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)	rs377767449
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)	rs886041277
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)	rs386134195
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	rs121908893
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	rs538372785
NM_003060.4(SLC22A5):c.825-52G>A	rs1194929977

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