ClinVar Miner

List of variants in gene SLC7A9 reported as uncertain significance for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.972G>A (p.Ala324=) rs61730903 0.01386
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_014270.5(SLC7A9):c.522C>T (p.Ser174=) rs142766345 0.00293
NM_014270.5(SLC7A9):c.*8C>T rs145079057 0.00187
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile) rs138744722 0.00160
NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=) rs147267783 0.00127
NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=) rs139388814 0.00069
NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=) rs141142633 0.00058
NM_014270.5(SLC7A9):c.*82C>T rs537630298 0.00046
NM_014270.5(SLC7A9):c.-26G>T rs375495587 0.00042
NM_014270.5(SLC7A9):c.183T>A (p.Ala61=) rs142721539 0.00040
NM_014270.5(SLC7A9):c.723C>T (p.Ile241=) rs146682721 0.00035
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met) rs147344717 0.00024
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_014270.5(SLC7A9):c.814G>A (p.Val272Met) rs774871326 0.00021
NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys) rs202069562 0.00018
NM_014270.5(SLC7A9):c.369G>A (p.Thr123=) rs144880180 0.00016
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met) rs201618022 0.00014
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His) rs138086959 0.00013
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=) rs199552160 0.00011
NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met) rs146154087 0.00011
NM_014270.5(SLC7A9):c.324C>T (p.Pro108=) rs375773222 0.00011
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser) rs752881588 0.00010
NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu) rs148435870 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014270.5(SLC7A9):c.604+2T>C rs763110287 0.00005
NM_014270.5(SLC7A9):c.-119G>A rs886054331 0.00004
NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=) rs144616352 0.00004
NM_014270.5(SLC7A9):c.780C>T (p.Ile260=) rs886054329 0.00004
NM_014270.5(SLC7A9):c.-159G>A rs768949145 0.00003
NM_014270.5(SLC7A9):c.-90G>A rs886054330 0.00003
NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln) rs200753692 0.00003
NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile) rs768355648 0.00003
NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser) rs143285077 0.00003
NM_014270.5(SLC7A9):c.827C>T (p.Thr276Ile) rs886054328 0.00003
NM_014270.5(SLC7A9):c.1074+14C>A rs367844535 0.00002
NM_014270.5(SLC7A9):c.1399A>G (p.Lys467Glu) rs201241670 0.00002
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr) rs1294879564 0.00002
NM_014270.5(SLC7A9):c.813C>T (p.Asn271=) rs371236313 0.00002
NM_014270.5(SLC7A9):c.*20C>T rs773144504 0.00001
NM_014270.5(SLC7A9):c.-133C>A rs1019636549 0.00001
NM_014270.5(SLC7A9):c.1225-8G>A rs374629909 0.00001
NM_014270.5(SLC7A9):c.177G>A (p.Thr59=) rs771205937 0.00001
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys) rs771811712 0.00001
NM_014270.5(SLC7A9):c.30A>G (p.Arg10=) rs765983557 0.00001
NM_014270.5(SLC7A9):c.605-3C>A rs749913021 0.00001
NM_014270.5(SLC7A9):c.639C>T (p.Gly213=) rs763216072 0.00001
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu) rs770811201 0.00001
NM_014270.5(SLC7A9):c.*77T>C rs886054327
NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)
NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs) rs772235897
NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=) rs536084711
NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=) rs760033221
NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)
NM_014270.5(SLC7A9):c.348C>G (p.Ser116Arg) rs1968893018
NM_014270.5(SLC7A9):c.460_471del (p.Leu154_Ala157del) rs1968887418
NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)
NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)
NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)
NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile) rs1968692991
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val) rs768466784

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.