ClinVar Miner

List of variants in gene SLC29A3 reported as uncertain significance for lymphatic system disorder

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.*379A>G rs6650127 0.00646
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr) rs147701543 0.00043
NM_018344.6(SLC29A3):c.629C>T (p.Thr210Met) rs146654579 0.00042
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) rs138640615 0.00033
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His) rs199861210 0.00022
NM_018344.6(SLC29A3):c.*603A>G rs886047120 0.00019
NM_018344.6(SLC29A3):c.484C>T (p.Arg162Cys) rs148381602 0.00019
NM_018344.6(SLC29A3):c.506T>C (p.Ile169Thr) rs139333654 0.00019
NM_018344.6(SLC29A3):c.991G>A (p.Glu331Lys) rs200004327 0.00018
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) rs147814367 0.00016
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) rs373404056 0.00014
NM_018344.6(SLC29A3):c.637G>A (p.Ala213Thr) rs142645681 0.00014
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) rs138389471 0.00013
NM_018344.6(SLC29A3):c.973G>A (p.Ala325Thr) rs144183340 0.00013
NM_018344.6(SLC29A3):c.914C>T (p.Thr305Met) rs201088617 0.00012
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn) rs146423891 0.00011
NM_018344.6(SLC29A3):c.862T>A (p.Ser288Thr) rs368747183 0.00011
NM_018344.6(SLC29A3):c.248G>A (p.Arg83His) rs370566644 0.00010
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994 0.00010
NM_018344.6(SLC29A3):c.199C>T (p.Pro67Ser) rs142216905 0.00009
NM_018344.6(SLC29A3):c.22G>A (p.Asp8Asn) rs558547846 0.00009
NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) rs772599816 0.00008
NM_018344.6(SLC29A3):c.674A>G (p.Asp225Gly) rs140852642 0.00008
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile) rs768974539 0.00007
NM_018344.6(SLC29A3):c.*318C>T rs527551448 0.00006
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) rs150398575 0.00006
NM_018344.6(SLC29A3):c.1180G>A (p.Val394Met) rs770560831 0.00006
NM_018344.6(SLC29A3):c.1204G>A (p.Val402Ile) rs1009541174 0.00006
NM_018344.6(SLC29A3):c.770C>T (p.Ala257Val) rs148164425 0.00006
NM_018344.6(SLC29A3):c.112C>T (p.Arg38Cys) rs143154754 0.00005
NM_018344.6(SLC29A3):c.1010C>T (p.Ser337Leu) rs200249218 0.00004
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys) rs746998307 0.00004
NM_018344.6(SLC29A3):c.247C>T (p.Arg83Cys) rs773118427 0.00004
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met) rs180984559 0.00004
NM_018344.6(SLC29A3):c.419C>T (p.Thr140Met) rs374153053 0.00004
NM_018344.6(SLC29A3):c.830C>T (p.Pro277Leu) rs146113694 0.00004
NM_018344.6(SLC29A3):c.*403C>T rs376297355 0.00003
NM_018344.6(SLC29A3):c.1099G>A (p.Ala367Thr) rs769137288 0.00003
NM_018344.6(SLC29A3):c.1168A>T (p.Ile390Phe) rs780141497 0.00003
NM_018344.6(SLC29A3):c.146G>C (p.Arg49Pro) rs201610819 0.00003
NM_018344.6(SLC29A3):c.271G>A (p.Gly91Arg) rs772093728 0.00003
NM_018344.6(SLC29A3):c.625G>A (p.Gly209Arg) rs779712924 0.00003
NM_018344.6(SLC29A3):c.104T>G (p.Leu35Arg) rs531482844 0.00002
NM_018344.6(SLC29A3):c.1219G>A (p.Val407Met) rs144517514 0.00002
NM_018344.6(SLC29A3):c.1285C>A (p.Leu429Ile) rs745445966 0.00002
NM_018344.6(SLC29A3):c.257C>T (p.Ser86Phe) rs770658371 0.00002
NM_018344.6(SLC29A3):c.*111A>G rs768698488 0.00001
NM_018344.6(SLC29A3):c.*220A>G rs753584878 0.00001
NM_018344.6(SLC29A3):c.*485G>A rs886047118 0.00001
NM_018344.6(SLC29A3):c.*557A>C rs886047119 0.00001
NM_018344.6(SLC29A3):c.1006G>A (p.Gly336Ser) rs769377761 0.00001
NM_018344.6(SLC29A3):c.10G>A (p.Val4Ile) rs202128882 0.00001
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) rs397515429 0.00001
NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) rs368939297 0.00001
NM_018344.6(SLC29A3):c.1235A>G (p.Asp412Gly) rs771819865 0.00001
NM_018344.6(SLC29A3):c.1243C>G (p.Pro415Ala) rs776729312 0.00001
NM_018344.6(SLC29A3):c.1307A>G (p.Tyr436Cys) rs746754933 0.00001
NM_018344.6(SLC29A3):c.1346C>T (p.Thr449Met) rs267607058 0.00001
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) rs374417695 0.00001
NM_018344.6(SLC29A3):c.148T>C (p.Phe50Leu) rs769621228 0.00001
NM_018344.6(SLC29A3):c.242A>G (p.Lys81Arg) rs1470448032 0.00001
NM_018344.6(SLC29A3):c.252C>G (p.Asn84Lys) rs749057267 0.00001
NM_018344.6(SLC29A3):c.384-17T>A rs1846758379 0.00001
NM_018344.6(SLC29A3):c.395A>G (p.His132Arg) rs777204470 0.00001
NM_018344.6(SLC29A3):c.418A>G (p.Thr140Ala) rs1412934119 0.00001
NM_018344.6(SLC29A3):c.431C>G (p.Ala144Gly) rs751289697 0.00001
NM_018344.6(SLC29A3):c.508G>C (p.Val170Leu) rs767315806 0.00001
NM_018344.6(SLC29A3):c.529G>A (p.Gly177Ser) rs751857525 0.00001
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) rs1013295413 0.00001
NM_018344.6(SLC29A3):c.571G>A (p.Gly191Ser) rs770328093 0.00001
NM_018344.6(SLC29A3):c.587G>A (p.Arg196Lys) rs142951844 0.00001
NM_018344.6(SLC29A3):c.590A>G (p.Asn197Ser) rs367979437 0.00001
NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) rs754138983 0.00001
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) rs397514626 0.00001
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) rs757865136 0.00001
NM_018344.6(SLC29A3):c.700T>C (p.Phe234Leu) rs147015207 0.00001
NM_018344.6(SLC29A3):c.737G>A (p.Gly246Glu) rs1767630986 0.00001
NM_018344.6(SLC29A3):c.782T>C (p.Met261Thr) rs963639698 0.00001
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val) rs142991278 0.00001
NM_018344.6(SLC29A3):c.7G>A (p.Val3Ile) rs774843880 0.00001
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457 0.00001
NM_018344.6(SLC29A3):c.854C>T (p.Ser285Leu) rs773495153 0.00001
NM_018344.6(SLC29A3):c.872T>C (p.Ile291Thr) rs763608414 0.00001
NM_018344.6(SLC29A3):c.896G>A (p.Arg299His) rs371038814 0.00001
NM_018344.6(SLC29A3):c.89C>T (p.Ala30Val) rs564350775 0.00001
NM_018344.6(SLC29A3):c.902T>A (p.Ile301Asn) rs1307741029 0.00001
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn) rs556688985 0.00001
NC_000010.10:g.(?_73079067)_(73082831_?)dup
NM_018344.6(SLC29A3):c.*11A>C rs776790087
NM_018344.6(SLC29A3):c.*321C>G rs1847107596
NM_018344.6(SLC29A3):c.*353C>A rs886047117
NM_018344.6(SLC29A3):c.*657dup rs564371527
NM_018344.6(SLC29A3):c.*744G>A rs147202397
NM_018344.6(SLC29A3):c.1004A>G (p.Lys335Arg)
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) rs1847078623
NM_018344.6(SLC29A3):c.1028C>G (p.Thr343Ser) rs1427868949
NM_018344.6(SLC29A3):c.1028C>T (p.Thr343Ile)
NM_018344.6(SLC29A3):c.1043C>T (p.Pro348Leu)
NM_018344.6(SLC29A3):c.1061T>C (p.Leu354Pro) rs1564543328
NM_018344.6(SLC29A3):c.1090C>T (p.Gln364Ter)
NM_018344.6(SLC29A3):c.1118G>A (p.Gly373Glu)
NM_018344.6(SLC29A3):c.111C>A (p.Asp37Glu) rs773183035
NM_018344.6(SLC29A3):c.1121C>T (p.Pro374Leu) rs1847082074
NM_018344.6(SLC29A3):c.1132G>A (p.Ala378Thr)
NM_018344.6(SLC29A3):c.1135C>G (p.Leu379Val) rs762572378
NM_018344.6(SLC29A3):c.1135C>T (p.Leu379Phe) rs762572378
NM_018344.6(SLC29A3):c.1142G>A (p.Gly381Glu)
NM_018344.6(SLC29A3):c.1142G>C (p.Gly381Ala) rs1835368591
NM_018344.6(SLC29A3):c.1147G>A (p.Val383Met) rs200001297
NM_018344.6(SLC29A3):c.1147G>C (p.Val383Leu) rs200001297
NM_018344.6(SLC29A3):c.1172C>A (p.Pro391His)
NM_018344.6(SLC29A3):c.1174C>G (p.Leu392Val) rs748622163
NM_018344.6(SLC29A3):c.1175T>C (p.Leu392Pro)
NM_018344.6(SLC29A3):c.1234G>A (p.Asp412Asn)
NM_018344.6(SLC29A3):c.1237G>A (p.Val413Met)
NM_018344.6(SLC29A3):c.1246G>A (p.Ala416Thr)
NM_018344.6(SLC29A3):c.1246G>T (p.Ala416Ser)
NM_018344.6(SLC29A3):c.1283A>G (p.Tyr428Cys)
NM_018344.6(SLC29A3):c.128T>C (p.Leu43Pro)
NM_018344.6(SLC29A3):c.1292C>T (p.Thr431Ile) rs758061099
NM_018344.6(SLC29A3):c.1330_1331delinsAT (p.Glu444Met)
NM_018344.6(SLC29A3):c.1342G>A (p.Ala448Thr)
NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)
NM_018344.6(SLC29A3):c.1359G>A (p.Met453Ile)
NM_018344.6(SLC29A3):c.135G>T (p.Arg45Ser)
NM_018344.6(SLC29A3):c.1368T>G (p.Tyr456Ter) rs2131852395
NM_018344.6(SLC29A3):c.1369G>A (p.Val457Met)
NM_018344.6(SLC29A3):c.1397C>G (p.Ala466Gly)
NM_018344.6(SLC29A3):c.1402T>A (p.Ser468Thr)
NM_018344.6(SLC29A3):c.1406C>G (p.Thr469Ser)
NM_018344.6(SLC29A3):c.1406C>T (p.Thr469Ile) rs748043094
NM_018344.6(SLC29A3):c.1424T>C (p.Ile475Thr) rs1564543743
NM_018344.6(SLC29A3):c.1427A>G (p.Ter476Trp) rs2131852506
NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) rs199619817
NM_018344.6(SLC29A3):c.146G>A (p.Arg49His)
NM_018344.6(SLC29A3):c.163A>C (p.Ile55Leu) rs774173242
NM_018344.6(SLC29A3):c.163A>G (p.Ile55Val)
NM_018344.6(SLC29A3):c.182G>A (p.Gly61Asp) rs2131796885
NM_018344.6(SLC29A3):c.185T>C (p.Ile62Thr)
NM_018344.6(SLC29A3):c.207CTT[1] (p.Phe71del) rs766108072
NM_018344.6(SLC29A3):c.219T>C (p.Thr73=) rs752027628
NM_018344.6(SLC29A3):c.21C>A (p.Asp7Glu) rs746298917
NM_018344.6(SLC29A3):c.225G>C (p.Lys75Asn)
NM_018344.6(SLC29A3):c.230A>G (p.Tyr77Cys)
NM_018344.6(SLC29A3):c.260G>A (p.Ser87Asn)
NM_018344.6(SLC29A3):c.290C>T (p.Ser97Leu) rs1055285740
NM_018344.6(SLC29A3):c.292G>A (p.Asp98Asn) rs2131797127
NM_018344.6(SLC29A3):c.297C>G (p.Ile99Met)
NM_018344.6(SLC29A3):c.300+5G>A rs1845890496
NM_018344.6(SLC29A3):c.300G>C (p.Leu100=)
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) rs1846497179
NM_018344.6(SLC29A3):c.311A>C (p.Glu104Ala)
NM_018344.6(SLC29A3):c.313A>C (p.Ser105Arg) rs2131827630
NM_018344.6(SLC29A3):c.319C>T (p.Leu107Phe) rs1046929974
NM_018344.6(SLC29A3):c.31C>G (p.His11Asp) rs2131796486
NM_018344.6(SLC29A3):c.31C>T (p.His11Tyr)
NM_018344.6(SLC29A3):c.340C>G (p.Pro114Ala) rs777691272
NM_018344.6(SLC29A3):c.344C>G (p.Ser115Cys)
NM_018344.6(SLC29A3):c.346A>G (p.Met116Val) rs749453197
NM_018344.6(SLC29A3):c.358G>T (p.Val120Leu)
NM_018344.6(SLC29A3):c.362C>T (p.Ala121Val)
NM_018344.6(SLC29A3):c.366C>A (p.Asn122Lys) rs1327430777
NM_018344.6(SLC29A3):c.374T>A (p.Leu125His) rs1846502655
NM_018344.6(SLC29A3):c.379A>G (p.Asn127Asp) rs761243929
NM_018344.6(SLC29A3):c.383+5G>A rs1846503811
NM_018344.6(SLC29A3):c.397A>G (p.Ile133Val) rs2131838911
NM_018344.6(SLC29A3):c.403G>C (p.Val135Leu)
NM_018344.6(SLC29A3):c.40A>G (p.Asn14Asp) rs541461094
NM_018344.6(SLC29A3):c.422T>G (p.Val141Gly)
NM_018344.6(SLC29A3):c.424A>G (p.Ile142Val) rs1589237723
NM_018344.6(SLC29A3):c.443T>G (p.Val148Gly)
NM_018344.6(SLC29A3):c.485G>A (p.Arg162His)
NM_018344.6(SLC29A3):c.516G>A (p.Met172Ile) rs1554817114
NM_018344.6(SLC29A3):c.517G>A (p.Val173Met) rs752487563
NM_018344.6(SLC29A3):c.517G>T (p.Val173Leu)
NM_018344.6(SLC29A3):c.517_519del (p.Val173del)
NM_018344.6(SLC29A3):c.526A>C (p.Ser176Arg)
NM_018344.6(SLC29A3):c.550_551delinsCC (p.Ser184Pro) rs2131839287
NM_018344.6(SLC29A3):c.564C>T (p.Gly188=) rs2131839320
NM_018344.6(SLC29A3):c.583A>G (p.Met195Val) rs748749123
NM_018344.6(SLC29A3):c.583A>T (p.Met195Leu)
NM_018344.6(SLC29A3):c.586A>G (p.Arg196Gly) rs771684605
NM_018344.6(SLC29A3):c.5C>T (p.Ala2Val) rs1845876868
NM_018344.6(SLC29A3):c.604A>G (p.Ile202Val)
NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) rs1846771482
NM_018344.6(SLC29A3):c.610+6A>G rs1404531907
NM_018344.6(SLC29A3):c.617C>T (p.Ala206Val) rs779297305
NM_018344.6(SLC29A3):c.619A>G (p.Met207Val)
NM_018344.6(SLC29A3):c.621G>C (p.Met207Ile) rs2131844237
NM_018344.6(SLC29A3):c.626G>A (p.Gly209Glu)
NM_018344.6(SLC29A3):c.650T>C (p.Leu217Ser) rs1846900381
NM_018344.6(SLC29A3):c.659T>G (p.Leu220Trp)
NM_018344.6(SLC29A3):c.676G>T (p.Val226Leu) rs750920341
NM_018344.6(SLC29A3):c.679A>G (p.Arg227Gly)
NM_018344.6(SLC29A3):c.684C>G (p.Asn228Lys)
NM_018344.6(SLC29A3):c.713_715del (p.Thr238_Val239delinsIle) rs1846903353
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018344.6(SLC29A3):c.719T>G (p.Phe240Cys) rs1589240617
NM_018344.6(SLC29A3):c.724G>A (p.Val242Met)
NM_018344.6(SLC29A3):c.728T>C (p.Leu243Pro)
NM_018344.6(SLC29A3):c.739C>T (p.Leu247Phe)
NM_018344.6(SLC29A3):c.743A>G (p.Tyr248Cys) rs1183935684
NM_018344.6(SLC29A3):c.749T>C (p.Leu250Pro)
NM_018344.6(SLC29A3):c.770C>G (p.Ala257Gly) rs148164425
NM_018344.6(SLC29A3):c.774G>C (p.Arg258Ser)
NM_018344.6(SLC29A3):c.799G>A (p.Ala267Thr) rs1847066506
NM_018344.6(SLC29A3):c.800C>A (p.Ala267Asp) rs757102651
NM_018344.6(SLC29A3):c.802C>T (p.His268Tyr)
NM_018344.6(SLC29A3):c.80A>T (p.Asp27Val) rs1002400369
NM_018344.6(SLC29A3):c.815G>A (p.Gly272Asp)
NM_018344.6(SLC29A3):c.821A>G (p.Glu274Gly) rs1847067185
NM_018344.6(SLC29A3):c.823G>A (p.Glu275Lys)
NM_018344.6(SLC29A3):c.839C>G (p.Ser280Cys)
NM_018344.6(SLC29A3):c.859G>A (p.Ala287Thr)
NM_018344.6(SLC29A3):c.874G>C (p.Asp292His) rs1847070217
NM_018344.6(SLC29A3):c.889C>T (p.Pro297Ser) rs150719927
NM_018344.6(SLC29A3):c.890C>T (p.Pro297Leu) rs779969612
NM_018344.6(SLC29A3):c.898C>T (p.Pro300Ser)
NM_018344.6(SLC29A3):c.908AGA[1] (p.Lys304del)
NM_018344.6(SLC29A3):c.914_915delinsTC (p.Thr305Ile) rs1589244189
NM_018344.6(SLC29A3):c.925G>C (p.Gly309Arg)
NM_018344.6(SLC29A3):c.926G>T (p.Gly309Val) rs2131851398
NM_018344.6(SLC29A3):c.946TTC[1] (p.Phe317del)
NM_018344.6(SLC29A3):c.964A>T (p.Ile322Phe) rs1260766977
NM_018344.6(SLC29A3):c.967T>C (p.Tyr323His)
NM_018344.6(SLC29A3):c.970C>T (p.Pro324Ser) rs2131851495
NM_018344.6(SLC29A3):c.986A>G (p.Asn329Ser) rs1554818046
NM_018344.6(SLC29A3):c.988A>G (p.Ile330Val)

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