List of variants in gene SLC22A5 reported as pathogenic by GeneDx

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

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00052
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
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.1462C>T (p.Arg488Cys)	rs377216516	0.00005
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.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
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.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	rs749282641	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.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	rs772578415	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)	rs72552725	0.00001
NM_003060.4(SLC22A5):c.1053-3_1053-2delinsTC	rs886041967
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)	rs1580892402
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)	rs796052040
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.42G>A (p.Trp14Ter)	rs796052036
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)	rs386134195
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.825G>A (p.Trp275Ter)	rs386134207
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)	rs72552724

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