ClinVar Miner

List of variants in gene SLC3A1 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: 125
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) rs115030299 0.00351
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser) rs141587158 0.00273
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359 0.00260
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) rs140821819 0.00211
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr) rs139310305 0.00076
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) rs143068960 0.00073
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys) rs149813423 0.00042
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) rs138597262 0.00037
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614 0.00026
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=) rs149507807 0.00026
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp) rs200001296 0.00019
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His) rs375237049 0.00016
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His) rs140452488 0.00008
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000341.4(SLC3A1):c.-16C>T rs372603963 0.00006
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) rs772556641 0.00006
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00005
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr) rs772817732 0.00005
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) rs201325919 0.00005
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 0.00004
NM_000341.4(SLC3A1):c.1136+9C>T rs749975291 0.00004
NM_000341.4(SLC3A1):c.1179C>T (p.Thr393=) rs778276427 0.00004
NM_000341.4(SLC3A1):c.1383T>C (p.Tyr461=) rs769816876 0.00004
NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn) rs147004629 0.00004
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=) rs771021431 0.00004
NM_000341.4(SLC3A1):c.1074C>T (p.His358=) rs754041697 0.00003
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) rs201143887 0.00003
NM_000341.4(SLC3A1):c.769A>G (p.Ser257Gly) rs746309755 0.00003
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys) rs764849767 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe) rs549888282 0.00002
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met) rs141061483 0.00001
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1098G>C (p.Gln366His) rs745473969 0.00001
NM_000341.4(SLC3A1):c.1136+10G>A rs755742518 0.00001
NM_000341.4(SLC3A1):c.1181T>C (p.Val394Ala) rs1238384854 0.00001
NM_000341.4(SLC3A1):c.1199C>T (p.Pro400Leu) rs759029819 0.00001
NM_000341.4(SLC3A1):c.1227C>T (p.Phe409=) rs1264045792 0.00001
NM_000341.4(SLC3A1):c.1250A>T (p.Asp417Val) rs1378685455 0.00001
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys) rs1031709288 0.00001
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) rs557669708 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile) rs778587102 0.00001
NM_000341.4(SLC3A1):c.303C>T (p.Ile101=) rs752281627 0.00001
NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg) rs148787131 0.00001
NM_000341.4(SLC3A1):c.439G>C (p.Asp147His) rs747368911 0.00001
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) rs757439376 0.00001
NM_000341.4(SLC3A1):c.597C>A (p.Ala199=) rs1318112597 0.00001
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000341.3(SLC3A1):c.-65C>T rs886056066
NM_000341.3(SLC3A1):c.-82T>G rs1671316353
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
NM_000341.4(SLC3A1):c.1012-11G>A
NM_000341.4(SLC3A1):c.1012-3A>G
NM_000341.4(SLC3A1):c.1058C>T (p.Thr353Met)
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
NM_000341.4(SLC3A1):c.1136+5A>G rs1671995727
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069
NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His) rs1671323312
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=) rs149411180
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala) rs370023281
NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)
NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)
NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg) rs2104383996
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
NM_000341.4(SLC3A1):c.1494T>C (p.Tyr498=) rs141515737
NM_000341.4(SLC3A1):c.1495G>T (p.Asp499Tyr) rs886056070
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
NM_000341.4(SLC3A1):c.1617+1097T>A rs868118842
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) rs376615998
NM_000341.4(SLC3A1):c.256C>T (p.Arg86Trp)
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met) rs750996109
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)
NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser) rs766140035
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu) rs886056068
NM_000341.4(SLC3A1):c.478G>T (p.Val160Phe)
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) rs140317484
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val) rs753086483
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=) rs1671960853
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) rs1671962088

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