List of variants reported as pathogenic for Renal carnitine transport defect by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.-149G>A	rs57262206	0.00144
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00052
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
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.680G>A (p.Arg227His)	rs185551386	0.00004
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
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.1006C>T (p.Arg336Ter)	rs754008420	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.428C>T (p.Pro143Leu)	rs1178584184	0.00001
NM_003060.4(SLC22A5):c.652+1G>A	rs386134200	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	rs386134208	0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)	rs72552725	0.00001
NM_003060.4(SLC22A5):c.1104_1105insGAGTATCTTTGTG (p.His369fs)
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)	rs763224132
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.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.844del (p.Arg282fs)	rs386134209

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.