ClinVar Miner

List of variants in gene SLC34A3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 562
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val) rs28542318 0.88574
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_001177316.2(SLC34A3):c.1336-143T>C rs28434439 0.24644
NM_001177316.2(SLC34A3):c.1335+267C>G rs80295920 0.13559
NM_001177316.2(SLC34A3):c.1094-10T>A rs35535797 0.11228
NM_001177316.2(SLC34A3):c.200G>A (p.Arg67His) rs34372115 0.06817
NM_001177316.2(SLC34A3):c.176-103C>G rs72763302 0.06214
NM_001177316.2(SLC34A3):c.175+185A>G rs112848350 0.04928
NM_001177316.2(SLC34A3):c.175+123C>T rs111532084 0.02353
NM_001177316.2(SLC34A3):c.756+9G>A rs4076685 0.02016
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_001177316.2(SLC34A3):c.86-120C>T rs112695368 0.01029
NM_001177316.2(SLC34A3):c.391C>T (p.Leu131=) rs114724831 0.00992
NM_001177316.2(SLC34A3):c.1009G>A (p.Gly337Ser) rs35699762 0.00936
NM_001177316.2(SLC34A3):c.477C>T (p.Ile159=) rs116743582 0.00813
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn) rs142918575 0.00504
NM_001177316.2(SLC34A3):c.1336-8G>A rs144883291 0.00481
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=) rs34796681 0.00467
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_001177316.2(SLC34A3):c.560+10G>C rs201317245 0.00368
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=) rs28510663 0.00302
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_001177316.2(SLC34A3):c.679G>A (p.Ala227Thr) rs200814479 0.00246
NM_001177316.2(SLC34A3):c.1123G>A (p.Gly375Ser) rs201759654 0.00233
NM_001177316.2(SLC34A3):c.1610G>A (p.Arg537His) rs146757110 0.00230
NM_001177316.2(SLC34A3):c.1093+19G>A rs201165474 0.00220
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001177316.2(SLC34A3):c.836C>T (p.Thr279Met) rs150570831 0.00202
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001177316.2(SLC34A3):c.493G>A (p.Val165Ile) rs146054276 0.00134
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001177316.2(SLC34A3):c.1162G>A (p.Ala388Thr) rs201683019 0.00097
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490 0.00072
NM_001177316.2(SLC34A3):c.926-58C>T rs528767313 0.00072
NM_001177316.2(SLC34A3):c.926-62G>A rs559801437 0.00071
NM_001177316.2(SLC34A3):c.1727G>T (p.Ser576Ile) rs200090657 0.00064
NM_001177316.2(SLC34A3):c.919C>A (p.Leu307Met) rs202109348 0.00064
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114 0.00054
NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=) rs114286327 0.00053
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=) rs142839759 0.00041
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567 0.00041
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=) rs199701166 0.00039
NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=) rs201720181 0.00035
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro) rs145899150 0.00027
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023 0.00025
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly) rs201964796 0.00024
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=) rs148095831 0.00022
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_001177316.2(SLC34A3):c.413C>T (p.Ser138Phe) rs141734934 0.00021
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=) rs369565150 0.00018
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=) rs148026048 0.00018
NM_001177316.2(SLC34A3):c.1535T>C (p.Met512Thr) rs199629080 0.00017
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro) rs200507464 0.00017
NM_001177316.2(SLC34A3):c.1443C>T (p.Thr481=) rs138643794 0.00016
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=) rs202060862 0.00016
NM_001177316.2(SLC34A3):c.304+20C>T rs199652389 0.00014
NM_001177316.2(SLC34A3):c.305-7G>A rs201109343 0.00014
NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=) rs150176604 0.00013
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=) rs140559114 0.00012
NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile) rs557760566 0.00011
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001177316.2(SLC34A3):c.242G>A (p.Gly81Asp) rs201273897 0.00011
NM_001177316.2(SLC34A3):c.995T>C (p.Leu332Pro) rs765668692 0.00011
NM_001177316.2(SLC34A3):c.1150G>A (p.Gly384Ser) rs201401168 0.00010
NM_001177316.2(SLC34A3):c.634G>A (p.Ala212Thr) rs754447323 0.00010
NM_001177316.2(SLC34A3):c.909G>A (p.Pro303=) rs752970581 0.00010
NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp) rs142206230 0.00009
NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser) rs200536604 0.00009
NM_001177316.2(SLC34A3):c.705G>A (p.Ala235=) rs143867268 0.00009
NM_001177316.2(SLC34A3):c.756+17C>T rs778776537 0.00009
NM_001177316.2(SLC34A3):c.925+84C>T rs767876692 0.00009
NM_001177316.2(SLC34A3):c.1616C>T (p.Pro539Leu) rs201678672 0.00008
NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu) rs750347570 0.00007
NM_001177316.2(SLC34A3):c.1639C>T (p.Arg547Cys) rs753910973 0.00007
NM_001177316.2(SLC34A3):c.576G>A (p.Ser192=) rs371056228 0.00007
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001177316.2(SLC34A3):c.845C>T (p.Pro282Leu) rs150363315 0.00007
NM_001177316.2(SLC34A3):c.1008C>T (p.Cys336=) rs758084602 0.00006
NM_001177316.2(SLC34A3):c.1609C>T (p.Arg537Cys) rs781443814 0.00006
NM_001177316.2(SLC34A3):c.698C>T (p.Ala233Val) rs370826757 0.00006
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_001177316.2(SLC34A3):c.738C>T (p.Leu246=) rs770852898 0.00006
NM_001177316.2(SLC34A3):c.795C>T (p.Asn265=) rs142040264 0.00006
NM_001177316.2(SLC34A3):c.925+32C>G rs748970719 0.00006
NM_001177316.2(SLC34A3):c.925+52C>T rs760365220 0.00006
NM_001177316.2(SLC34A3):c.1060G>A (p.Val354Met) rs534880363 0.00005
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met) rs770332251 0.00005
NM_001177316.2(SLC34A3):c.1135G>A (p.Val379Ile) rs368525218 0.00005
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=) rs200677629 0.00005
NM_001177316.2(SLC34A3):c.316G>A (p.Gly106Arg) rs142106801 0.00005
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=) rs372523225 0.00005
NM_001177316.2(SLC34A3):c.1091C>T (p.Ala364Val) rs766318308 0.00004
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=) rs762986714 0.00004
NM_001177316.2(SLC34A3):c.1188G>A (p.Thr396=) rs141417134 0.00004
NM_001177316.2(SLC34A3):c.1198G>C (p.Val400Leu) rs748862410 0.00004
NM_001177316.2(SLC34A3):c.1444G>A (p.Ala482Thr) rs757308975 0.00004
NM_001177316.2(SLC34A3):c.153G>A (p.Lys51=) rs757247707 0.00004
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu) rs570711066 0.00004
NM_001177316.2(SLC34A3):c.460C>T (p.Arg154Trp) rs373109398 0.00004
NM_001177316.2(SLC34A3):c.561G>A (p.Arg187=) rs1260778090 0.00004
NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile) rs868077426 0.00004
NM_001177316.2(SLC34A3):c.638C>T (p.Thr213Met) rs752335467 0.00004
NM_001177316.2(SLC34A3):c.639G>A (p.Thr213=) rs758138530 0.00004
NM_001177316.2(SLC34A3):c.64G>A (p.Glu22Lys) rs146559846 0.00004
NM_001177316.2(SLC34A3):c.652A>T (p.Arg218Trp) rs371871525 0.00004
NM_001177316.2(SLC34A3):c.757-16C>T rs372713559 0.00004
NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala) rs760162354 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=) rs370122685 0.00004
NM_001177316.2(SLC34A3):c.1093+9G>A rs199976309 0.00003
NM_001177316.2(SLC34A3):c.1335+6G>T rs117115558 0.00003
NM_001177316.2(SLC34A3):c.1432G>A (p.Gly478Arg) rs758689905 0.00003
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=) rs772903522 0.00003
NM_001177316.2(SLC34A3):c.315C>T (p.Ala105=) rs768404323 0.00003
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.561-8G>A rs756580408 0.00003
NM_001177316.2(SLC34A3):c.579G>A (p.Ala193=) rs746906973 0.00003
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs) rs755196320 0.00003
NM_001177316.2(SLC34A3):c.734C>T (p.Pro245Leu) rs773260718 0.00003
NM_001177316.2(SLC34A3):c.846+15C>T rs755035076 0.00003
NM_001177316.2(SLC34A3):c.926-3C>T rs1339056973 0.00003
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633 0.00003
NM_001177316.2(SLC34A3):c.1239G>A (p.Ala413=) rs150068634 0.00002
NM_001177316.2(SLC34A3):c.1324A>G (p.Ser442Gly) rs773903138 0.00002
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His) rs757815865 0.00002
NM_001177316.2(SLC34A3):c.1505C>T (p.Ala502Val) rs571107918 0.00002
NM_001177316.2(SLC34A3):c.1703G>A (p.Arg568His) rs1162579417 0.00002
NM_001177316.2(SLC34A3):c.383T>A (p.Val128Asp) rs759826596 0.00002
NM_001177316.2(SLC34A3):c.3G>A (p.Met1Ile) rs369400414 0.00002
NM_001177316.2(SLC34A3):c.449-3C>T rs757092241 0.00002
NM_001177316.2(SLC34A3):c.988G>A (p.Gly330Ser) rs369211663 0.00002
NM_001177316.2(SLC34A3):c.1051C>T (p.Arg351Cys) rs387907514 0.00001
NM_001177316.2(SLC34A3):c.1057C>T (p.Arg353Cys) rs750292913 0.00001
NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr) rs138702939 0.00001
NM_001177316.2(SLC34A3):c.1093+1G>C rs751776251 0.00001
NM_001177316.2(SLC34A3):c.1183T>C (p.Phe395Leu) rs560440785 0.00001
NM_001177316.2(SLC34A3):c.1212G>A (p.Gly404=) rs764269161 0.00001
NM_001177316.2(SLC34A3):c.1234C>T (p.Arg412Trp) rs373242362 0.00001
NM_001177316.2(SLC34A3):c.1238C>T (p.Ala413Val) rs121918235 0.00001
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1252C>G (p.Leu418Val) rs778500281 0.00001
NM_001177316.2(SLC34A3):c.1266C>T (p.Ile422=) rs747670455 0.00001
NM_001177316.2(SLC34A3):c.1394C>T (p.Pro465Leu) rs777056115 0.00001
NM_001177316.2(SLC34A3):c.1404G>A (p.Arg468=) rs751060883 0.00001
NM_001177316.2(SLC34A3):c.1416G>A (p.Pro472=) rs1463803849 0.00001
NM_001177316.2(SLC34A3):c.1498C>T (p.Pro500Ser) rs1404221017 0.00001
NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His) rs1017557592 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=) rs545784124 0.00001
NM_001177316.2(SLC34A3):c.1734G>A (p.Pro578=) rs1460298689 0.00001
NM_001177316.2(SLC34A3):c.1739C>T (p.Ala580Val) rs373729595 0.00001
NM_001177316.2(SLC34A3):c.176-16T>A rs367687903 0.00001
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=) rs1040164729 0.00001
NM_001177316.2(SLC34A3):c.423C>T (p.Ile141=) rs748166039 0.00001
NM_001177316.2(SLC34A3):c.429C>T (p.Val143=) rs746020074 0.00001
NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn) rs750369891 0.00001
NM_001177316.2(SLC34A3):c.561-9C>T rs1469811548 0.00001
NM_001177316.2(SLC34A3):c.585C>T (p.His195=) rs387907515 0.00001
NM_001177316.2(SLC34A3):c.633C>T (p.Ser211=) rs766789639 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 0.00001
NM_001177316.2(SLC34A3):c.683G>A (p.Ser228Asn) rs754361051 0.00001
NM_001177316.2(SLC34A3):c.715C>T (p.Leu239Phe) rs1251730119 0.00001
NM_001177316.2(SLC34A3):c.765C>T (p.Ser255=) rs200744225 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_001177316.2(SLC34A3):c.85+18G>A rs1341775150 0.00001
NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser) rs758514484 0.00001
NM_001177316.2(SLC34A3):c.90C>G (p.Thr30=) rs766614221 0.00001
NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr) rs1332288437 0.00001
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=) rs915920618 0.00001
NC_000009.11:g.(?_140127661)_(140130868_?)del
NC_000009.11:g.(?_140129039)_(140129203_?)dup
NM_001177316.2(SLC34A3):c.-39-94C>T rs1554782458
NM_001177316.2(SLC34A3):c.-40+71G>A rs1554782358
NM_001177316.2(SLC34A3):c.1006T>C (p.Cys336Arg)
NM_001177316.2(SLC34A3):c.1008_1009dup (p.Gly337fs) rs2131415051
NM_001177316.2(SLC34A3):c.1011C>T (p.Gly337=)
NM_001177316.2(SLC34A3):c.1025T>C (p.Ile342Thr) rs370096620
NM_001177316.2(SLC34A3):c.1035G>A (p.Leu345=)
NM_001177316.2(SLC34A3):c.1038C>T (p.Leu346=)
NM_001177316.2(SLC34A3):c.1043C>G (p.Ser348Cys)
NM_001177316.2(SLC34A3):c.1043C>T (p.Ser348Phe)
NM_001177316.2(SLC34A3):c.1044T>A (p.Ser348=)
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs) rs750178720
NM_001177316.2(SLC34A3):c.1049T>C (p.Leu350Pro) rs1836442722
NM_001177316.2(SLC34A3):c.1052G>A (p.Arg351His)
NM_001177316.2(SLC34A3):c.1053C>T (p.Arg351=)
NM_001177316.2(SLC34A3):c.1056C>A (p.Gly352=)
NM_001177316.2(SLC34A3):c.1056C>T (p.Gly352=)
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1059C>T (p.Arg353=)
NM_001177316.2(SLC34A3):c.1062G>A (p.Val354=) rs2131415534
NM_001177316.2(SLC34A3):c.1077G>A (p.Arg359=)
NM_001177316.2(SLC34A3):c.1089T>C (p.Asn363=)
NM_001177316.2(SLC34A3):c.1093+10T>C
NM_001177316.2(SLC34A3):c.1093+11G>A
NM_001177316.2(SLC34A3):c.1093+22_1093+26del
NM_001177316.2(SLC34A3):c.1093+2T>C
NM_001177316.2(SLC34A3):c.1093+52_1094-4del
NM_001177316.2(SLC34A3):c.1093+68_1106del rs2131416218
NM_001177316.2(SLC34A3):c.1093G>A (p.Asp365Asn)
NM_001177316.2(SLC34A3):c.1093G>T (p.Asp365Tyr)
NM_001177316.2(SLC34A3):c.1094-13G>A
NM_001177316.2(SLC34A3):c.1094-14G>A
NM_001177316.2(SLC34A3):c.1094-15C>T
NM_001177316.2(SLC34A3):c.1094-2A>G
NM_001177316.2(SLC34A3):c.1094-44_1134del
NM_001177316.2(SLC34A3):c.1105C>T (p.Pro369Ser) rs775994027
NM_001177316.2(SLC34A3):c.1107G>A (p.Pro369=)
NM_001177316.2(SLC34A3):c.1120G>A (p.Gly374Ser)
NM_001177316.2(SLC34A3):c.1122C>T (p.Gly374=)
NM_001177316.2(SLC34A3):c.1130T>C (p.Leu377Pro)
NM_001177316.2(SLC34A3):c.1134C>G (p.Ala378=) rs766680009
NM_001177316.2(SLC34A3):c.1140C>A (p.Leu380=)
NM_001177316.2(SLC34A3):c.1142C>T (p.Ala381Val)
NM_001177316.2(SLC34A3):c.1146C>T (p.Gly382=)
NM_001177316.2(SLC34A3):c.1161C>T (p.Phe387=)
NM_001177316.2(SLC34A3):c.1166T>C (p.Leu389Pro)
NM_001177316.2(SLC34A3):c.1168C>T (p.Gln390Ter) rs2131417221
NM_001177316.2(SLC34A3):c.1173C>T (p.Ser391=)
NM_001177316.2(SLC34A3):c.117A>G (p.Glu39=)
NM_001177316.2(SLC34A3):c.1187C>A (p.Thr396Lys)
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met) rs138798032
NM_001177316.2(SLC34A3):c.1188G>C (p.Thr396=)
NM_001177316.2(SLC34A3):c.1190C>T (p.Ala397Val)
NM_001177316.2(SLC34A3):c.1197C>T (p.Val399=)
NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met) rs748862410
NM_001177316.2(SLC34A3):c.1203C>A (p.Pro401=)
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1209G>T (p.Met403Ile)
NM_001177316.2(SLC34A3):c.120G>C (p.Gly40=) rs1836254855
NM_001177316.2(SLC34A3):c.1210+17G>A rs202071967
NM_001177316.2(SLC34A3):c.1210+2T>C
NM_001177316.2(SLC34A3):c.1210+4A>G
NM_001177316.2(SLC34A3):c.1210+8G>A
NM_001177316.2(SLC34A3):c.1215C>T (p.Val405=)
NM_001177316.2(SLC34A3):c.1216G>A (p.Gly406Arg)
NM_001177316.2(SLC34A3):c.1230G>A (p.Leu410=)
NM_001177316.2(SLC34A3):c.1246del (p.Leu416fs)
NM_001177316.2(SLC34A3):c.1247T>C (p.Leu416Pro)
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1264A>G (p.Ile422Val)
NM_001177316.2(SLC34A3):c.1268G>A (p.Gly423Asp)
NM_001177316.2(SLC34A3):c.1269C>T (p.Gly423=)
NM_001177316.2(SLC34A3):c.1278C>T (p.Thr426=)
NM_001177316.2(SLC34A3):c.129C>T (p.Asp43=)
NM_001177316.2(SLC34A3):c.1309G>A (p.Ala437Thr)
NM_001177316.2(SLC34A3):c.1320G>A (p.Met440Ile)
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=) rs144275345
NM_001177316.2(SLC34A3):c.1328C>T (p.Ala443Val)
NM_001177316.2(SLC34A3):c.1335+11C>A
NM_001177316.2(SLC34A3):c.1335+16C>T
NM_001177316.2(SLC34A3):c.1335+17C>T
NM_001177316.2(SLC34A3):c.1335+20G>A
NM_001177316.2(SLC34A3):c.1335+257T>G rs1554784918
NM_001177316.2(SLC34A3):c.1336-13C>G
NM_001177316.2(SLC34A3):c.1336-1G>T
NM_001177316.2(SLC34A3):c.1336-1_1345del rs1836570479
NM_001177316.2(SLC34A3):c.1336-3dup
NM_001177316.2(SLC34A3):c.1344C>T (p.Leu448=)
NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del) rs761662543
NM_001177316.2(SLC34A3):c.1361A>G (p.Asn454Ser)
NM_001177316.2(SLC34A3):c.1368C>T (p.Ala456=)
NM_001177316.2(SLC34A3):c.1369G>A (p.Gly457Ser)
NM_001177316.2(SLC34A3):c.1373T>A (p.Ile458Asn)
NM_001177316.2(SLC34A3):c.1377G>T (p.Leu459=)
NM_001177316.2(SLC34A3):c.1386C>T (p.Tyr462=) rs777986863
NM_001177316.2(SLC34A3):c.1395T>C (p.Pro465=)
NM_001177316.2(SLC34A3):c.1398A>G (p.Ala466=)
NM_001177316.2(SLC34A3):c.1400T>G (p.Leu467Arg) rs1836573983
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=) rs121918238
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001177316.2(SLC34A3):c.1403G>A (p.Arg468Gln)
NM_001177316.2(SLC34A3):c.1403G>T (p.Arg468Leu) rs763789409
NM_001177316.2(SLC34A3):c.1429T>G (p.Phe477Val)
NM_001177316.2(SLC34A3):c.143del (p.Pro48fs) rs1564415555
NM_001177316.2(SLC34A3):c.1444G>T (p.Ala482Ser)
NM_001177316.2(SLC34A3):c.1447C>T (p.Arg483Cys)
NM_001177316.2(SLC34A3):c.144T>C (p.Pro48=)
NM_001177316.2(SLC34A3):c.145C>T (p.Gln49Ter) rs2131403056
NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro) rs149389629
NM_001177316.2(SLC34A3):c.1467_1477dup (p.Leu493fs)
NM_001177316.2(SLC34A3):c.1482_1496del (p.Gly495_Leu499del)
NM_001177316.2(SLC34A3):c.1483G>A (p.Gly495Arg)
NM_001177316.2(SLC34A3):c.1502del (p.Leu501fs) rs1836579405
NM_001177316.2(SLC34A3):c.1506G>A (p.Ala502=)
NM_001177316.2(SLC34A3):c.1513G>A (p.Gly505Arg)
NM_001177316.2(SLC34A3):c.1538= (p.Glu513=)
NM_001177316.2(SLC34A3):c.1545C>T (p.Ala515=)
NM_001177316.2(SLC34A3):c.1551C>T (p.Val517=)
NM_001177316.2(SLC34A3):c.1552G>A (p.Gly518Arg)
NM_001177316.2(SLC34A3):c.1556G>A (p.Gly519Asp) rs1409293542
NM_001177316.2(SLC34A3):c.1556del (p.Gly519fs)
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1567G>A (p.Gly523Arg)
NM_001177316.2(SLC34A3):c.1570C>T (p.Leu524=)
NM_001177316.2(SLC34A3):c.1576CTC[1] (p.Leu527del) rs776275610
NM_001177316.2(SLC34A3):c.1581C>G (p.Leu527=)
NM_001177316.2(SLC34A3):c.1581C>T (p.Leu527=)
NM_001177316.2(SLC34A3):c.1584_1585del (p.Ile529fs) rs2131425175
NM_001177316.2(SLC34A3):c.1601_1633dup (p.Leu534_Val544dup) rs1564423219
NM_001177316.2(SLC34A3):c.1607G>A (p.Arg536Gln)
NM_001177316.2(SLC34A3):c.1612C>A (p.Arg538=) rs140319849
NM_001177316.2(SLC34A3):c.1613G>A (p.Arg538Gln)
NM_001177316.2(SLC34A3):c.1617G>A (p.Pro539=)
NM_001177316.2(SLC34A3):c.1633C>T (p.Arg545Cys)
NM_001177316.2(SLC34A3):c.1650C>T (p.Ala550=)
NM_001177316.2(SLC34A3):c.1653G>A (p.Trp551Ter) rs1064796955
NM_001177316.2(SLC34A3):c.1659C>T (p.Pro553=)
NM_001177316.2(SLC34A3):c.1660G>A (p.Val554Ile)
NM_001177316.2(SLC34A3):c.1664G>A (p.Trp555Ter)
NM_001177316.2(SLC34A3):c.1665G>C (p.Trp555Cys)
NM_001177316.2(SLC34A3):c.1690C>T (p.Arg564Cys)
NM_001177316.2(SLC34A3):c.1700C>T (p.Thr567Ile)
NM_001177316.2(SLC34A3):c.1702C>T (p.Arg568Cys) rs770213028
NM_001177316.2(SLC34A3):c.1704C>G (p.Arg568=)
NM_001177316.2(SLC34A3):c.1704C>T (p.Arg568=)
NM_001177316.2(SLC34A3):c.1717_1732del (p.Asn573fs) rs1182218551
NM_001177316.2(SLC34A3):c.1719C>T (p.Asn573=)
NM_001177316.2(SLC34A3):c.1720G>A (p.Val574Ile)
NM_001177316.2(SLC34A3):c.1733C>T (p.Pro578Leu)
NM_001177316.2(SLC34A3):c.1734G>C (p.Pro578=)
NM_001177316.2(SLC34A3):c.1735A>C (p.Lys579Gln)
NM_001177316.2(SLC34A3):c.175+17C>T
NM_001177316.2(SLC34A3):c.175+1G>T
NM_001177316.2(SLC34A3):c.175+4G>A
NM_001177316.2(SLC34A3):c.176-10G>C
NM_001177316.2(SLC34A3):c.176-12_176-11del rs1385816128
NM_001177316.2(SLC34A3):c.179_199del (p.Leu60_Leu66del) rs749421435
NM_001177316.2(SLC34A3):c.181C>T (p.Arg61Cys)
NM_001177316.2(SLC34A3):c.183C>A (p.Arg61=) rs766590721
NM_001177316.2(SLC34A3):c.184G>A (p.Val62Met)
NM_001177316.2(SLC34A3):c.189C>G (p.Ala63=)
NM_001177316.2(SLC34A3):c.189C>T (p.Ala63=)
NM_001177316.2(SLC34A3):c.194G>A (p.Arg65Lys)
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup) rs532224704
NM_001177316.2(SLC34A3):c.197T>G (p.Leu66Arg)
NM_001177316.2(SLC34A3):c.198G>A (p.Leu66=)
NM_001177316.2(SLC34A3):c.199C>T (p.Arg67Cys)
NM_001177316.2(SLC34A3):c.19G>A (p.Gly7Ser)
NM_001177316.2(SLC34A3):c.200G>T (p.Arg67Leu)
NM_001177316.2(SLC34A3):c.202C>G (p.Arg68Gly)
NM_001177316.2(SLC34A3):c.202C>T (p.Arg68Cys) rs774035480
NM_001177316.2(SLC34A3):c.207G>A (p.Val69=) rs1333192790
NM_001177316.2(SLC34A3):c.210C>T (p.Ala70=) rs755237394
NM_001177316.2(SLC34A3):c.210del (p.Gly71fs) rs1064796402
NM_001177316.2(SLC34A3):c.217G>A (p.Val73Ile)
NM_001177316.2(SLC34A3):c.218T>C (p.Val73Ala) rs387907511
NM_001177316.2(SLC34A3):c.21C>G (p.Gly7=)
NM_001177316.2(SLC34A3):c.240C>T (p.Leu80=)
NM_001177316.2(SLC34A3):c.245G>T (p.Ser82Ile) rs387907509
NM_001177316.2(SLC34A3):c.266C>T (p.Ser89Phe)
NM_001177316.2(SLC34A3):c.274G>A (p.Val92Ile)
NM_001177316.2(SLC34A3):c.276C>T (p.Val92=)
NM_001177316.2(SLC34A3):c.292C>T (p.Gln98Ter)
NM_001177316.2(SLC34A3):c.294G>A (p.Gln98=)
NM_001177316.2(SLC34A3):c.2T>C (p.Met1Thr)
NM_001177316.2(SLC34A3):c.300G>A (p.Leu100=)
NM_001177316.2(SLC34A3):c.304+10G>A
NM_001177316.2(SLC34A3):c.304+12G>C
NM_001177316.2(SLC34A3):c.304+14C>G
NM_001177316.2(SLC34A3):c.304+14C>T rs566604583
NM_001177316.2(SLC34A3):c.304+18T>G
NM_001177316.2(SLC34A3):c.304+5G>A rs2131405851
NM_001177316.2(SLC34A3):c.304+9C>T
NM_001177316.2(SLC34A3):c.305-1G>C
NM_001177316.2(SLC34A3):c.305-5T>C
NM_001177316.2(SLC34A3):c.305-8del rs1283799215
NM_001177316.2(SLC34A3):c.306C>T (p.Ser102=)
NM_001177316.2(SLC34A3):c.314C>T (p.Ala105Val) rs1273229869
NM_001177316.2(SLC34A3):c.320A>G (p.Asp107Gly)
NM_001177316.2(SLC34A3):c.334_336del (p.Asn112del)
NM_001177316.2(SLC34A3):c.336C>T (p.Asn112=)
NM_001177316.2(SLC34A3):c.339G>A (p.Val113=)
NM_001177316.2(SLC34A3):c.371T>C (p.Ile124Thr)
NM_001177316.2(SLC34A3):c.376G>A (p.Val126Met) rs376681513
NM_001177316.2(SLC34A3):c.381G>A (p.Leu127=)
NM_001177316.2(SLC34A3):c.391C>G (p.Leu131Val)
NM_001177316.2(SLC34A3):c.399G>A (p.Gln133=)
NM_001177316.2(SLC34A3):c.39C>A (p.Pro13=)
NM_001177316.2(SLC34A3):c.410C>T (p.Thr137Met)
NM_001177316.2(SLC34A3):c.439G>A (p.Ala147Thr) rs387907512
NM_001177316.2(SLC34A3):c.448+2T>C
NM_001177316.2(SLC34A3):c.448+7G>A
NM_001177316.2(SLC34A3):c.448C>T (p.Leu150=) rs200186549
NM_001177316.2(SLC34A3):c.449-10C>T
NM_001177316.2(SLC34A3):c.449-13C>T
NM_001177316.2(SLC34A3):c.449-14C>A rs545767491
NM_001177316.2(SLC34A3):c.449-14C>G
NM_001177316.2(SLC34A3):c.449-14C>T
NM_001177316.2(SLC34A3):c.449-18_456del rs1836329410
NM_001177316.2(SLC34A3):c.449-9C>A
NM_001177316.2(SLC34A3):c.449-9C>G rs377306924
NM_001177316.2(SLC34A3):c.449-9del rs752134669
NM_001177316.2(SLC34A3):c.449-9dup
NM_001177316.2(SLC34A3):c.472C>T (p.Pro158Ser) rs387907510
NM_001177316.2(SLC34A3):c.48C>T (p.Asp16=)
NM_001177316.2(SLC34A3):c.491A>C (p.Asn164Thr)
NM_001177316.2(SLC34A3):c.491A>G (p.Asn164Ser)
NM_001177316.2(SLC34A3):c.492C>T (p.Asn164=)
NM_001177316.2(SLC34A3):c.496G>C (p.Gly166Arg) rs200536604
NM_001177316.2(SLC34A3):c.497G>A (p.Gly166Asp) rs1056269862
NM_001177316.2(SLC34A3):c.509C>G (p.Thr170Ser)
NM_001177316.2(SLC34A3):c.516C>G (p.Thr172=) rs387907513
NM_001177316.2(SLC34A3):c.51G>A (p.Ala17=)
NM_001177316.2(SLC34A3):c.527T>A (p.Met176Lys)
NM_001177316.2(SLC34A3):c.530C>A (p.Ala177Glu) rs771442873
NM_001177316.2(SLC34A3):c.533A>G (p.Gln178Arg) rs1564417596
NM_001177316.2(SLC34A3):c.536C>T (p.Ser179Leu)
NM_001177316.2(SLC34A3):c.543C>A (p.Asp181Glu) rs568970459
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp) rs199747826
NM_001177316.2(SLC34A3):c.545G>A (p.Arg182Gln) rs759525091
NM_001177316.2(SLC34A3):c.560+10G>A rs201317245
NM_001177316.2(SLC34A3):c.560+11G>A
NM_001177316.2(SLC34A3):c.560+15G>C
NM_001177316.2(SLC34A3):c.560+18G>A
NM_001177316.2(SLC34A3):c.560+22T>C rs1554783285
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077
NM_001177316.2(SLC34A3):c.560+4A>T
NM_001177316.2(SLC34A3):c.560G>A (p.Arg187Lys)
NM_001177316.2(SLC34A3):c.561-1G>A
NM_001177316.2(SLC34A3):c.570C>T (p.Ser190=)
NM_001177316.2(SLC34A3):c.572G>A (p.Gly191Asp) rs387907508
NM_001177316.2(SLC34A3):c.573C>G (p.Gly191=)
NM_001177316.2(SLC34A3):c.573C>T (p.Gly191=)
NM_001177316.2(SLC34A3):c.578C>T (p.Ala193Val)
NM_001177316.2(SLC34A3):c.582G>A (p.Val194=)
NM_001177316.2(SLC34A3):c.5C>T (p.Pro2Leu)
NM_001177316.2(SLC34A3):c.614T>A (p.Val205Asp) rs774506457
NM_001177316.2(SLC34A3):c.654G>A (p.Arg218=)
NM_001177316.2(SLC34A3):c.681C>T (p.Ala227=)
NM_001177316.2(SLC34A3):c.699G>A (p.Ala233=)
NM_001177316.2(SLC34A3):c.708C>T (p.Pro236=)
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.711dup (p.Ile238fs) rs779140809
NM_001177316.2(SLC34A3):c.714C>T (p.Ile238=) rs973901361
NM_001177316.2(SLC34A3):c.717C>G (p.Leu239=)
NM_001177316.2(SLC34A3):c.728C>T (p.Thr243Met)
NM_001177316.2(SLC34A3):c.729G>A (p.Thr243=)
NM_001177316.2(SLC34A3):c.734del (p.Pro245fs) rs1169054324
NM_001177316.2(SLC34A3):c.734dup (p.Leu246fs)
NM_001177316.2(SLC34A3):c.735G>A (p.Pro245=)
NM_001177316.2(SLC34A3):c.735G>T (p.Pro245=) rs760991503
NM_001177316.2(SLC34A3):c.736C>G (p.Leu246Val)
NM_001177316.2(SLC34A3):c.750C>T (p.Ile250=)
NM_001177316.2(SLC34A3):c.751G>A (p.Val251Met) rs776182012
NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu) rs776182012
NM_001177316.2(SLC34A3):c.755_756+23del
NM_001177316.2(SLC34A3):c.756+15C>T
NM_001177316.2(SLC34A3):c.756+16G>A
NM_001177316.2(SLC34A3):c.756+17C>G
NM_001177316.2(SLC34A3):c.756+21dup rs748238812
NM_001177316.2(SLC34A3):c.756+8C>T
NM_001177316.2(SLC34A3):c.757-11C>T
NM_001177316.2(SLC34A3):c.757-14C>T
NM_001177316.2(SLC34A3):c.757-15C>T
NM_001177316.2(SLC34A3):c.757-16C>A
NM_001177316.2(SLC34A3):c.757-17A>G
NM_001177316.2(SLC34A3):c.757-18G>A
NM_001177316.2(SLC34A3):c.757-18G>C
NM_001177316.2(SLC34A3):c.757-1G>A rs760326604
NM_001177316.2(SLC34A3):c.757-7C>T
NM_001177316.2(SLC34A3):c.769A>G (p.Met257Val) rs765193958
NM_001177316.2(SLC34A3):c.813C>T (p.Leu271=)
NM_001177316.2(SLC34A3):c.81T>C (p.Asn27=)
NM_001177316.2(SLC34A3):c.829G>A (p.Gly277Ser)
NM_001177316.2(SLC34A3):c.830G>A (p.Gly277Asp)
NM_001177316.2(SLC34A3):c.832_837del (p.Thr278_Thr279del)
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=) rs368153798
NM_001177316.2(SLC34A3):c.841C>T (p.Gln281Ter)
NM_001177316.2(SLC34A3):c.846+14C>T
NM_001177316.2(SLC34A3):c.846G>T (p.Pro282=)
NM_001177316.2(SLC34A3):c.847-19T>A
NM_001177316.2(SLC34A3):c.847-45T>A rs1554783966
NM_001177316.2(SLC34A3):c.847-4C>T
NM_001177316.2(SLC34A3):c.847-6C>T
NM_001177316.2(SLC34A3):c.85+14C>T
NM_001177316.2(SLC34A3):c.85+7G>T
NM_001177316.2(SLC34A3):c.85G>A (p.Gly29Arg) rs777567171
NM_001177316.2(SLC34A3):c.867T>C (p.Cys289=)
NM_001177316.2(SLC34A3):c.869G>T (p.Gly290Val)
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=) rs747540875
NM_001177316.2(SLC34A3):c.870C>T (p.Gly290=)
NM_001177316.2(SLC34A3):c.877G>A (p.Gly293Ser)
NM_001177316.2(SLC34A3):c.881C>T (p.Pro294Leu)
NM_001177316.2(SLC34A3):c.888A>G (p.Thr296=)
NM_001177316.2(SLC34A3):c.889G>A (p.Glu297Lys)
NM_001177316.2(SLC34A3):c.891GAA[1] (p.Lys298del) rs775037904
NM_001177316.2(SLC34A3):c.897C>T (p.Asn299=)
NM_001177316.2(SLC34A3):c.900C>T (p.Ser300=)
NM_001177316.2(SLC34A3):c.907C>A (p.Pro303Thr)
NM_001177316.2(SLC34A3):c.908C>T (p.Pro303Leu)
NM_001177316.2(SLC34A3):c.912G>A (p.Ala304=)
NM_001177316.2(SLC34A3):c.918G>A (p.Arg306=)
NM_001177316.2(SLC34A3):c.925+10G>A
NM_001177316.2(SLC34A3):c.925+10G>C rs781750271
NM_001177316.2(SLC34A3):c.925+15A>C
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001177316.2(SLC34A3):c.925+23C>T
NM_001177316.2(SLC34A3):c.925+24C>A
NM_001177316.2(SLC34A3):c.925+31A>G
NM_001177316.2(SLC34A3):c.925+36C>T
NM_001177316.2(SLC34A3):c.925+37C>T
NM_001177316.2(SLC34A3):c.925+38A>C rs778568573
NM_001177316.2(SLC34A3):c.925+43C>G rs747754272
NM_001177316.2(SLC34A3):c.925+47C>T
NM_001177316.2(SLC34A3):c.925+48T>C
NM_001177316.2(SLC34A3):c.925+51C>A
NM_001177316.2(SLC34A3):c.925+53G>A
NM_001177316.2(SLC34A3):c.925+57C>T
NM_001177316.2(SLC34A3):c.925+60A>G
NM_001177316.2(SLC34A3):c.925+62A>G
NM_001177316.2(SLC34A3):c.925+63T>C
NM_001177316.2(SLC34A3):c.925+64G>C
NM_001177316.2(SLC34A3):c.925+67G>A
NM_001177316.2(SLC34A3):c.925+67G>T
NM_001177316.2(SLC34A3):c.925+69G>A
NM_001177316.2(SLC34A3):c.925+70G>A
NM_001177316.2(SLC34A3):c.925+78C>G
NM_001177316.2(SLC34A3):c.925+7C>T
NM_001177316.2(SLC34A3):c.925+9C>T
NM_001177316.2(SLC34A3):c.926-2A>G
NM_001177316.2(SLC34A3):c.926-47_926-38del rs764132111
NM_001177316.2(SLC34A3):c.926-48C>T
NM_001177316.2(SLC34A3):c.926-51C>T
NM_001177316.2(SLC34A3):c.926-53C>T
NM_001177316.2(SLC34A3):c.926-57G>A
NM_001177316.2(SLC34A3):c.926-71G>A
NM_001177316.2(SLC34A3):c.926-73C>T
NM_001177316.2(SLC34A3):c.926-79G>A
NM_001177316.2(SLC34A3):c.926-80G>A
NM_001177316.2(SLC34A3):c.926-81C>T
NM_001177316.2(SLC34A3):c.926-82G>T
NM_001177316.2(SLC34A3):c.926-83G>A
NM_001177316.2(SLC34A3):c.926-83G>C
NM_001177316.2(SLC34A3):c.928C>T (p.Arg310Cys)
NM_001177316.2(SLC34A3):c.933C>A (p.His311Gln)
NM_001177316.2(SLC34A3):c.937T>C (p.Phe313Leu)
NM_001177316.2(SLC34A3):c.941C>T (p.Ala314Val) rs757810082
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs) rs1473689787
NM_001177316.2(SLC34A3):c.947C>T (p.Thr316Met)
NM_001177316.2(SLC34A3):c.948G>A (p.Thr316=)
NM_001177316.2(SLC34A3):c.952C>T (p.Leu318Phe)
NM_001177316.2(SLC34A3):c.956C>T (p.Thr319Met) rs769622295
NM_001177316.2(SLC34A3):c.966C>T (p.Ala322=)
NM_001177316.2(SLC34A3):c.967G>A (p.Val323Met)
NM_001177316.2(SLC34A3):c.981G>C (p.Leu327=)

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