ClinVar Miner

List of variants in gene IDUA, SLC26A1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_022042.4(SLC26A1):c.*274G>A rs2045064 0.96662
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000203.5(IDUA):c.299+3990A>G rs3822020 0.66105
NM_022042.4(SLC26A1):c.1667A>G (p.Gln556Arg) rs3796622 0.65999
NM_022042.4(SLC26A1):c.1875C>T (p.Ala625=) rs3796621 0.43864
NM_022042.4(SLC26A1):c.918G>A (p.Ser306=) rs4690221 0.39951
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_022042.4(SLC26A1):c.576+46C>G rs2290401 0.12552
NM_022042.4(SLC26A1):c.577-184A>G rs74907962 0.06658
NM_022042.4(SLC26A1):c.576+212C>T rs115435541 0.03624
NM_022042.4(SLC26A1):c.-27-308G>A rs28392476 0.02679
NM_022042.4(SLC26A1):c.577-120G>A rs58780485 0.02583
NM_022042.4(SLC26A1):c.120G>A (p.Ser40=) rs36084010 0.02572
NM_022042.4(SLC26A1):c.1102G>A (p.Gly368Ser) rs3796623 0.02286
NM_022042.4(SLC26A1):c.1059C>T (p.Ala353=) rs59758572 0.01975
NM_022042.4(SLC26A1):c.576+89A>C rs112329002 0.01748
NC_000004.12:g.986922C>T rs116840205 0.01458
NM_022042.4(SLC26A1):c.829G>A (p.Ala277Thr) rs144938228 0.01443
NM_022042.4(SLC26A1):c.513C>T (p.Cys171=) rs114936403 0.01361
NM_022042.4(SLC26A1):c.*276G>A rs147250021 0.01317
NM_022042.4(SLC26A1):c.576+55T>C rs77305844 0.01091
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His) rs73219719 0.01054
NM_022042.4(SLC26A1):c.1713C>G (p.Ala571=) rs36069160 0.00995
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_022042.4(SLC26A1):c.171G>A (p.Thr57=) rs35019459 0.00865
NM_022042.4(SLC26A1):c.1333G>A (p.Val445Ile) rs144218313 0.00661
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=) rs36095812 0.00611
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg) rs187110381 0.00386
NM_022042.4(SLC26A1):c.1677C>T (p.Tyr559=) rs35935555 0.00374
NM_000203.5(IDUA):c.299+7G>A rs200911718 0.00276
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro) rs148386572 0.00222
NM_022042.4(SLC26A1):c.279G>T (p.Leu93=) rs142651185 0.00217
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_022042.4(SLC26A1):c.1511G>A (p.Arg504His) rs201106151 0.00150
NM_022042.4(SLC26A1):c.544A>G (p.Thr182Ala) rs149867035 0.00118
NM_022042.4(SLC26A1):c.2007C>G (p.Asp669Glu) rs147669408 0.00099
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys) rs547128457 0.00084
NC_000004.12:g.986813C>G rs189844468 0.00077
NM_022042.4(SLC26A1):c.74G>A (p.Arg25Gln) rs35719765 0.00076
NM_022042.4(SLC26A1):c.1004C>T (p.Pro335Leu) rs140299648 0.00069
NM_022042.4(SLC26A1):c.217G>A (p.Val73Ile) rs74824334 0.00067
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_022042.4(SLC26A1):c.166G>A (p.Ala56Thr) rs142573758 0.00061
NM_022042.4(SLC26A1):c.859C>T (p.Arg287Cys) rs201572215 0.00045
NM_022042.4(SLC26A1):c.1286C>T (p.Ala429Val) rs139142520 0.00038
NM_000203.5(IDUA):c.299+988C>T rs142262555 0.00037
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_022042.4(SLC26A1):c.182G>A (p.Arg61His) rs138449255 0.00031
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp) rs143381873 0.00029
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_022042.4(SLC26A1):c.555G>A (p.Thr185=) rs151180930 0.00024
NM_022042.4(SLC26A1):c.963C>T (p.Gly321=) rs138492048 0.00024
NM_022042.4(SLC26A1):c.1296G>A (p.Pro432=) rs150810594 0.00023
NM_022042.4(SLC26A1):c.432C>T (p.Ala144=) rs143284684 0.00021
NM_022042.4(SLC26A1):c.1114C>T (p.Arg372Cys) rs749514306 0.00019
NM_022042.4(SLC26A1):c.1585G>A (p.Glu529Lys) rs371738826 0.00019
NM_000203.5(IDUA):c.299+3558C>T rs201219683 0.00017
NM_022042.4(SLC26A1):c.400G>A (p.Gly134Arg) rs201921976 0.00017
NM_022042.4(SLC26A1):c.762C>T (p.Arg254=) rs377294470 0.00017
NM_022042.4(SLC26A1):c.1785G>A (p.Pro595=) rs148200047 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_022042.4(SLC26A1):c.61C>T (p.Arg21Cys) rs376882525 0.00016
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys) rs370834972 0.00016
NM_022042.4(SLC26A1):c.154G>C (p.Asp52His) rs147553032 0.00014
NM_022042.4(SLC26A1):c.315C>G (p.Ser105=) rs377636525 0.00014
NM_022042.4(SLC26A1):c.535C>T (p.Arg179Cys) rs370208644 0.00014
NM_022042.4(SLC26A1):c.1152C>T (p.Asn384=) rs140876735 0.00013
NM_000203.5(IDUA):c.299+1542A>T rs387907487 0.00011
NM_000203.5(IDUA):c.299+3399C>T rs368990025 0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_022042.4(SLC26A1):c.1385G>A (p.Arg462Gln) rs201608921 0.00011
NM_022042.4(SLC26A1):c.1520G>A (p.Arg507His) rs375487522 0.00011
NM_022042.4(SLC26A1):c.1869C>T (p.Asp623=) rs144567476 0.00011
NM_022042.4(SLC26A1):c.467G>A (p.Gly156Glu) rs377629899 0.00011
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_022042.4(SLC26A1):c.1060G>A (p.Ala354Thr) rs756246013 0.00010
NM_000203.5(IDUA):c.240C>G (p.Val80=) rs373277285 0.00009
NM_022042.4(SLC26A1):c.1116T>C (p.Arg372=) rs559991759 0.00009
NM_022042.4(SLC26A1):c.1404G>A (p.Pro468=) rs370491888 0.00009
NM_022042.4(SLC26A1):c.1848C>T (p.Cys616=) rs377435206 0.00009
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu) rs199554923 0.00008
NM_022042.4(SLC26A1):c.1189G>A (p.Ala397Thr) rs572968482 0.00008
NM_022042.4(SLC26A1):c.2063G>A (p.Arg688Gln) rs148726880 0.00008
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr) rs374176452 0.00008
NM_022042.4(SLC26A1):c.763G>A (p.Gly255Ser) rs773823235 0.00008
NM_022042.4(SLC26A1):c.1316G>A (p.Arg439Gln) rs148721282 0.00007
NM_022042.4(SLC26A1):c.140G>A (p.Arg47Gln) rs778314762 0.00007
NM_022042.4(SLC26A1):c.1231C>T (p.Arg411Trp) rs554753768 0.00006
NM_022042.4(SLC26A1):c.1531G>A (p.Ala511Thr) rs369620087 0.00006
NM_022042.4(SLC26A1):c.367G>A (p.Val123Met) rs374220162 0.00006
NM_022042.4(SLC26A1):c.1179C>T (p.Phe393=) rs771840183 0.00005
NM_022042.4(SLC26A1):c.1382C>T (p.Pro461Leu) rs376705237 0.00005
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met) rs558586992 0.00005
NM_000203.5(IDUA):c.238G>A (p.Val80Ile) rs749227148 0.00004
NM_022042.4(SLC26A1):c.1161C>T (p.Pro387=) rs753516510 0.00004
NM_022042.4(SLC26A1):c.1384C>T (p.Arg462Trp) rs933082796 0.00004
NM_022042.4(SLC26A1):c.1557G>A (p.Thr519=) rs146711224 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_022042.4(SLC26A1):c.1799C>T (p.Ala600Val) rs1435786055 0.00004
NM_022042.4(SLC26A1):c.1854G>A (p.Pro618=) rs748205966 0.00004
NM_022042.4(SLC26A1):c.366C>T (p.Ser122=) rs754151903 0.00004
NM_022042.4(SLC26A1):c.704G>A (p.Arg235Gln) rs369080577 0.00004
NM_022042.4(SLC26A1):c.736G>C (p.Val246Leu) rs778406580 0.00004
NM_022042.4(SLC26A1):c.964G>A (p.Asp322Asn) rs776045970 0.00004
NM_000203.5(IDUA):c.299+1627G>A rs387907483 0.00003
NM_022042.4(SLC26A1):c.1900C>T (p.Arg634Cys) rs1461885620 0.00003
NM_022042.4(SLC26A1):c.547G>A (p.Ala183Thr) rs546110251 0.00003
NM_022042.4(SLC26A1):c.1394G>A (p.Arg465Gln) rs757960404 0.00002
NM_022042.4(SLC26A1):c.1464C>T (p.Ala488=) rs746627874 0.00002
NM_022042.4(SLC26A1):c.1833A>G (p.Thr611=) rs373580788 0.00002
NM_022042.4(SLC26A1):c.337T>C (p.Phe113Leu) rs780694854 0.00002
NM_022042.4(SLC26A1):c.654G>A (p.Gly218=) rs375888392 0.00002
NM_022042.4(SLC26A1):c.780C>T (p.Asn260=) rs756732014 0.00002
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.193G>A (p.Val65Ile) rs762406262 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp) rs751792135 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.299+1104G>A rs387907484 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.299+3322C>T rs387907486 0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606 0.00001
NM_000203.5(IDUA):c.31C>G (p.Leu11Val) rs1423609884 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.91C>T (p.Leu31=) rs1257215898 0.00001
NM_022042.4(SLC26A1):c.1232G>A (p.Arg411Gln) rs758753898 0.00001
NM_022042.4(SLC26A1):c.1506C>T (p.Ala502=) rs753883088 0.00001
NM_022042.4(SLC26A1):c.1760C>T (p.Pro587Leu) rs756619696 0.00001
NM_022042.4(SLC26A1):c.1813G>A (p.Ala605Thr) rs756245768 0.00001
NM_022042.4(SLC26A1):c.194C>T (p.Pro65Leu) rs749562383 0.00001
NM_022042.4(SLC26A1):c.1995G>A (p.Glu665=) rs771388855 0.00001
NM_022042.4(SLC26A1):c.240C>A (p.Gly80=) rs1325853085 0.00001
NM_022042.4(SLC26A1):c.613G>A (p.Ala205Thr) rs368056565 0.00001
NM_022042.4(SLC26A1):c.639T>C (p.Asp213=) rs369163740 0.00001
NM_022042.4(SLC26A1):c.678G>A (p.Ser226=) rs373839581 0.00001
NM_022042.4(SLC26A1):c.774G>C (p.Gln258His) rs745511682 0.00001
NM_022042.4(SLC26A1):c.786C>T (p.Cys262=) rs752471622 0.00001
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.112C>A (p.Arg38Ser)
NM_000203.5(IDUA):c.133C>T (p.Arg45Cys)
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter) rs1713799895
NM_000203.5(IDUA):c.157T>C (p.Cys53Arg)
NM_000203.5(IDUA):c.158+1G>C rs1264013707
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
NM_000203.5(IDUA):c.159-19_160del rs398123255
NM_000203.5(IDUA):c.162C>T (p.Pro54=) rs1378930636
NM_000203.5(IDUA):c.164del (p.Pro55fs) rs727503966
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.165del (p.Leu56fs) rs2153015607
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1A>G (p.Met1Val) rs1553914737
NM_000203.5(IDUA):c.209del (p.Gln70fs) rs2153015644
NM_000203.5(IDUA):c.218A>G (p.Asn73Ser)
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys) rs771733089
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser) rs564306004
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
NM_000203.5(IDUA):c.268A>G (p.Thr90Ala)
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg) rs1713872403
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000203.5(IDUA):c.299+1212del rs1553915188
NM_000203.5(IDUA):c.299+1279C>T rs387907481
NM_000203.5(IDUA):c.299+1G>C rs398123259
NM_000203.5(IDUA):c.299+2403C>A
NM_000203.5(IDUA):c.299+3632G>C rs143974931
NM_000203.5(IDUA):c.299_299+1delinsAT rs2153015709
NM_000203.5(IDUA):c.29T>C (p.Leu10Pro)
NM_000203.5(IDUA):c.35C>T (p.Ala12Val)
NM_000203.5(IDUA):c.36_56del (p.Leu13_Ala19del)
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.48G>A (p.Ser16=)
NM_000203.5(IDUA):c.50_61del (p.Leu17_Ala20del)
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
NM_022042.4(SLC26A1):c.1010T>C (p.Leu337Pro)
NM_022042.4(SLC26A1):c.1018C>G (p.Arg340Gly)
NM_022042.4(SLC26A1):c.1018C>T (p.Arg340Cys)
NM_022042.4(SLC26A1):c.1019G>A (p.Arg340His)
NM_022042.4(SLC26A1):c.1036G>A (p.Val346Met)
NM_022042.4(SLC26A1):c.1041C>T (p.Ala347=)
NM_022042.4(SLC26A1):c.1044G>A (p.Leu348=)
NM_022042.4(SLC26A1):c.1051G>A (p.Val351Met)
NM_022042.4(SLC26A1):c.1057G>A (p.Ala353Thr)
NM_022042.4(SLC26A1):c.1079C>T (p.Ala360Val)
NM_022042.4(SLC26A1):c.1080G>A (p.Ala360=)
NM_022042.4(SLC26A1):c.1087T>C (p.Phe363Leu)
NM_022042.4(SLC26A1):c.1101C>T (p.His367=)
NM_022042.4(SLC26A1):c.1115G>T (p.Arg372Leu)
NM_022042.4(SLC26A1):c.1134G>A (p.Leu378=)
NM_022042.4(SLC26A1):c.1151A>G (p.Asn384Ser)
NM_022042.4(SLC26A1):c.1153G>A (p.Val385Met)
NM_022042.4(SLC26A1):c.1162G>A (p.Ala388Thr)
NM_022042.4(SLC26A1):c.1171C>T (p.His391Tyr)
NM_022042.4(SLC26A1):c.1180G>A (p.Ala394Thr)
NM_022042.4(SLC26A1):c.1192G>A (p.Ala398Thr)
NM_022042.4(SLC26A1):c.1193C>A (p.Ala398Asp)
NM_022042.4(SLC26A1):c.1242G>C (p.Leu414=) rs1006838496
NM_022042.4(SLC26A1):c.1244C>A (p.Ser415Tyr)
NM_022042.4(SLC26A1):c.1244C>T (p.Ser415Phe) rs200470975
NM_022042.4(SLC26A1):c.1257C>T (p.Ser419=)
NM_022042.4(SLC26A1):c.125G>C (p.Ser42Thr)
NM_022042.4(SLC26A1):c.1263C>A (p.Thr421=)
NM_022042.4(SLC26A1):c.1263C>T (p.Thr421=) rs575164465
NM_022042.4(SLC26A1):c.1269G>A (p.Val423=)
NM_022042.4(SLC26A1):c.1284G>A (p.Leu428=)
NM_022042.4(SLC26A1):c.1287G>A (p.Ala429=)
NM_022042.4(SLC26A1):c.1288C>G (p.Leu430Val)
NM_022042.4(SLC26A1):c.1291G>A (p.Ala431Thr)
NM_022042.4(SLC26A1):c.1295C>T (p.Pro432Leu)
NM_022042.4(SLC26A1):c.1302C>G (p.Phe434Leu)
NM_022042.4(SLC26A1):c.1305C>A (p.His435Gln)
NM_022042.4(SLC26A1):c.131T>C (p.Leu44Pro)
NM_022042.4(SLC26A1):c.1320C>T (p.Ser440=)
NM_022042.4(SLC26A1):c.1332C>T (p.Cys444=)
NM_022042.4(SLC26A1):c.1338C>T (p.Ile446=)
NM_022042.4(SLC26A1):c.1339G>A (p.Val447Met)
NM_022042.4(SLC26A1):c.1346G>A (p.Ser449Asn)
NM_022042.4(SLC26A1):c.1357G>A (p.Ala453Thr)
NM_022042.4(SLC26A1):c.1364G>A (p.Arg455His) rs371025483
NM_022042.4(SLC26A1):c.1364G>T (p.Arg455Leu)
NM_022042.4(SLC26A1):c.136G>A (p.Val46Ile)
NM_022042.4(SLC26A1):c.1378C>T (p.Leu460Phe)
NM_022042.4(SLC26A1):c.1383G>A (p.Pro461=)
NM_022042.4(SLC26A1):c.139C>T (p.Arg47Trp)
NM_022042.4(SLC26A1):c.1406C>T (p.Ala469Val) rs387907480
NM_022042.4(SLC26A1):c.1417G>A (p.Val473Ile)
NM_022042.4(SLC26A1):c.1432G>A (p.Ala478Thr)
NM_022042.4(SLC26A1):c.1434G>A (p.Ala478=)
NM_022042.4(SLC26A1):c.1444A>G (p.Met482Val)
NM_022042.4(SLC26A1):c.1459G>A (p.Glu487Lys) rs387907488
NM_022042.4(SLC26A1):c.1479C>T (p.Gly493=)
NM_022042.4(SLC26A1):c.1480G>A (p.Val494Ile)
NM_022042.4(SLC26A1):c.1490C>T (p.Ser497Leu)
NM_022042.4(SLC26A1):c.1491G>A (p.Ser497=)
NM_022042.4(SLC26A1):c.1499G>C (p.Ser500Thr)
NM_022042.4(SLC26A1):c.1507G>A (p.Gly503Ser)
NM_022042.4(SLC26A1):c.1509C>T (p.Gly503=) rs387907479
NM_022042.4(SLC26A1):c.1519C>A (p.Arg507Ser) rs368806302
NM_022042.4(SLC26A1):c.1519C>T (p.Arg507Cys)
NM_022042.4(SLC26A1):c.1525C>T (p.Arg509Cys)
NM_022042.4(SLC26A1):c.1530C>T (p.Thr510=)
NM_022042.4(SLC26A1):c.1532C>A (p.Ala511Asp) rs1714039155
NM_022042.4(SLC26A1):c.1534C>T (p.Leu512=)
NM_022042.4(SLC26A1):c.1566C>G (p.Tyr522Ter) rs752562626
NM_022042.4(SLC26A1):c.1584C>T (p.Phe528=)
NM_022042.4(SLC26A1):c.1590C>T (p.Gly530=)
NM_022042.4(SLC26A1):c.1597C>A (p.Pro533Thr)
NM_022042.4(SLC26A1):c.1597C>T (p.Pro533Ser)
NM_022042.4(SLC26A1):c.1606G>A (p.Gly536Ser)
NM_022042.4(SLC26A1):c.1611G>A (p.Val537=) rs2153016518
NM_022042.4(SLC26A1):c.1613G>A (p.Arg538Gln)
NM_022042.4(SLC26A1):c.1633C>T (p.Pro545Ser) rs387907485
NM_022042.4(SLC26A1):c.1635G>A (p.Pro545=)
NM_022042.4(SLC26A1):c.1647_1648insT (p.Asn550Ter)
NM_022042.4(SLC26A1):c.1655A>G (p.Asp552Gly)
NM_022042.4(SLC26A1):c.165C>A (p.Pro55=)
NM_022042.4(SLC26A1):c.1686G>A (p.Thr562=) rs199549367
NM_022042.4(SLC26A1):c.1688G>A (p.Gly563Glu)
NM_022042.4(SLC26A1):c.16G>C (p.Glu6Gln)
NM_022042.4(SLC26A1):c.1700G>C (p.Gly567Ala)
NM_022042.4(SLC26A1):c.170C>T (p.Thr57Met)
NM_022042.4(SLC26A1):c.1726G>A (p.Gly576Arg)
NM_022042.4(SLC26A1):c.172C>A (p.Arg58Ser)
NM_022042.4(SLC26A1):c.172C>T (p.Arg58Cys)
NM_022042.4(SLC26A1):c.173G>A (p.Arg58His)
NM_022042.4(SLC26A1):c.1765C>G (p.Gln589Glu)
NM_022042.4(SLC26A1):c.1784C>T (p.Pro595Leu)
NM_022042.4(SLC26A1):c.1793C>A (p.Thr598Asn)
NM_022042.4(SLC26A1):c.179T>C (p.Leu60Pro)
NM_022042.4(SLC26A1):c.1803G>A (p.Ala601=)
NM_022042.4(SLC26A1):c.1821C>T (p.Ala607=)
NM_022042.4(SLC26A1):c.1822G>A (p.Gly608Ser)
NM_022042.4(SLC26A1):c.1843G>A (p.Asp615Asn)
NM_022042.4(SLC26A1):c.1855C>A (p.Leu619Met)
NM_022042.4(SLC26A1):c.1901G>A (p.Arg634His)
NM_022042.4(SLC26A1):c.190C>T (p.Arg64Cys)
NM_022042.4(SLC26A1):c.1910A>G (p.Tyr637Cys)
NM_022042.4(SLC26A1):c.1912G>A (p.Gly638Arg)
NM_022042.4(SLC26A1):c.191G>A (p.Arg64His)
NM_022042.4(SLC26A1):c.1937_1947del (p.Leu646fs) rs752630392
NM_022042.4(SLC26A1):c.1953G>A (p.Pro651=)
NM_022042.4(SLC26A1):c.1958T>C (p.Val653Ala)
NM_022042.4(SLC26A1):c.1959G>A (p.Val653=)
NM_022042.4(SLC26A1):c.1965C>G (p.Asp655Glu)
NM_022042.4(SLC26A1):c.196C>T (p.Arg66Trp)
NM_022042.4(SLC26A1):c.1990G>A (p.Gly664Arg)
NM_022042.4(SLC26A1):c.1998C>T (p.Gly666=)
NM_022042.4(SLC26A1):c.2009C>T (p.Thr670Met)
NM_022042.4(SLC26A1):c.2025G>A (p.Gln675=)
NM_022042.4(SLC26A1):c.2044G>A (p.Asp682Asn)
NM_022042.4(SLC26A1):c.2044G>C (p.Asp682His)
NM_022042.4(SLC26A1):c.205C>G (p.Leu69Val)
NM_022042.4(SLC26A1):c.2092G>A (p.Asp698Asn)
NM_022042.4(SLC26A1):c.2101C>T (p.Leu701=)
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)
NM_022042.4(SLC26A1):c.213C>T (p.Gly71=)
NM_022042.4(SLC26A1):c.226G>A (p.Gly76Arg) rs387907482
NM_022042.4(SLC26A1):c.238G>A (p.Gly80Ser)
NM_022042.4(SLC26A1):c.255G>A (p.Pro85=) rs147094131
NM_022042.4(SLC26A1):c.260C>T (p.Ala87Val)
NM_022042.4(SLC26A1):c.27G>C (p.Gln9His)
NM_022042.4(SLC26A1):c.282C>T (p.Ala94=)
NM_022042.4(SLC26A1):c.283G>T (p.Gly95Trp) rs777205197
NM_022042.4(SLC26A1):c.285G>T (p.Gly95=)
NM_022042.4(SLC26A1):c.293C>T (p.Pro98Leu) rs1010906017
NM_022042.4(SLC26A1):c.301A>G (p.Ser101Gly)
NM_022042.4(SLC26A1):c.311C>T (p.Thr104Met) rs751574638
NM_022042.4(SLC26A1):c.312G>A (p.Thr104=)
NM_022042.4(SLC26A1):c.315C>T (p.Ser105=)
NM_022042.4(SLC26A1):c.316TTC[1] (p.Phe107del) rs750081799
NM_022042.4(SLC26A1):c.322G>A (p.Ala108Thr)
NM_022042.4(SLC26A1):c.335A>G (p.Tyr112Cys)
NM_022042.4(SLC26A1):c.340C>G (p.Leu114Val)
NM_022042.4(SLC26A1):c.389G>T (p.Cys130Phe)
NM_022042.4(SLC26A1):c.390C>T (p.Cys130=)
NM_022042.4(SLC26A1):c.408G>C (p.Val136=)
NM_022042.4(SLC26A1):c.412G>T (p.Asp138Tyr)
NM_022042.4(SLC26A1):c.415C>T (p.Arg139Trp)
NM_022042.4(SLC26A1):c.443C>T (p.Pro148Leu)
NM_022042.4(SLC26A1):c.450G>A (p.Gln150=)
NM_022042.4(SLC26A1):c.454G>A (p.Gly152Ser)
NM_022042.4(SLC26A1):c.47C>T (p.Pro16Leu)
NM_022042.4(SLC26A1):c.48G>A (p.Pro16=) rs761659699
NM_022042.4(SLC26A1):c.48_71del (p.Val17_Pro24del) rs1714347111
NM_022042.4(SLC26A1):c.494C>T (p.Ser165Leu)
NM_022042.4(SLC26A1):c.528C>A (p.Tyr176Ter)
NM_022042.4(SLC26A1):c.52C>T (p.Arg18Ter)
NM_022042.4(SLC26A1):c.532A>G (p.Ile178Val)
NM_022042.4(SLC26A1):c.536G>A (p.Arg179His)
NM_022042.4(SLC26A1):c.540C>T (p.Val180=)
NM_022042.4(SLC26A1):c.56G>C (p.Arg19Pro)
NM_022042.4(SLC26A1):c.576+1G>A
NM_022042.4(SLC26A1):c.577-12C>T
NM_022042.4(SLC26A1):c.577-13A>G
NM_022042.4(SLC26A1):c.577-15G>A rs192314032
NM_022042.4(SLC26A1):c.577-15G>C
NM_022042.4(SLC26A1):c.577-16C>T
NM_022042.4(SLC26A1):c.577-223C>T rs184671154
NM_022042.4(SLC26A1):c.577-263C>T rs76493568
NM_022042.4(SLC26A1):c.577-9C>T
NM_022042.4(SLC26A1):c.588C>T (p.Gly196=)
NM_022042.4(SLC26A1):c.589G>A (p.Val197Ile)
NM_022042.4(SLC26A1):c.593T>A (p.Leu198His)
NM_022042.4(SLC26A1):c.596G>A (p.Arg199Gln)
NM_022042.4(SLC26A1):c.607G>A (p.Val203Met)
NM_022042.4(SLC26A1):c.625C>T (p.Gln209Ter)
NM_022042.4(SLC26A1):c.62G>A (p.Arg21His)
NM_022042.4(SLC26A1):c.637G>A (p.Asp213Asn) rs372848776
NM_022042.4(SLC26A1):c.650T>C (p.Met217Thr)
NM_022042.4(SLC26A1):c.660C>T (p.Ser220=)
NM_022042.4(SLC26A1):c.661G>A (p.Val221Met)
NM_022042.4(SLC26A1):c.681G>A (p.Gln227=)
NM_022042.4(SLC26A1):c.700G>A (p.Val234Met)
NM_022042.4(SLC26A1):c.710C>T (p.Pro237Leu)
NM_022042.4(SLC26A1):c.711G>A (p.Pro237=)
NM_022042.4(SLC26A1):c.712C>T (p.Arg238Trp)
NM_022042.4(SLC26A1):c.713G>A (p.Arg238Gln)
NM_022042.4(SLC26A1):c.718C>T (p.Gln240Ter)
NM_022042.4(SLC26A1):c.722G>A (p.Gly241Glu)
NM_022042.4(SLC26A1):c.726C>T (p.Pro242=)
NM_022042.4(SLC26A1):c.727G>A (p.Gly243Ser)
NM_022042.4(SLC26A1):c.733G>C (p.Val245Leu)
NM_022042.4(SLC26A1):c.743C>G (p.Thr248Arg)
NM_022042.4(SLC26A1):c.766G>A (p.Ala256Thr)
NM_022042.4(SLC26A1):c.775G>A (p.Ala259Thr)
NM_022042.4(SLC26A1):c.781G>A (p.Val261Met)
NM_022042.4(SLC26A1):c.782T>C (p.Val261Ala)
NM_022042.4(SLC26A1):c.783G>A (p.Val261=)
NM_022042.4(SLC26A1):c.785G>A (p.Cys262Tyr)
NM_022042.4(SLC26A1):c.787G>A (p.Asp263Asn)
NM_022042.4(SLC26A1):c.815C>A (p.Ala272Glu)
NM_022042.4(SLC26A1):c.82C>T (p.Arg28Cys)
NM_022042.4(SLC26A1):c.831G>A (p.Ala277=)
NM_022042.4(SLC26A1):c.847C>T (p.Arg283Cys)
NM_022042.4(SLC26A1):c.848G>A (p.Arg283His)
NM_022042.4(SLC26A1):c.857A>G (p.His286Arg)
NM_022042.4(SLC26A1):c.873G>A (p.Pro291=)
NM_022042.4(SLC26A1):c.881C>T (p.Thr294Met)
NM_022042.4(SLC26A1):c.897C>T (p.Ile299=)
NM_022042.4(SLC26A1):c.912C>T (p.Leu304=)
NM_022042.4(SLC26A1):c.936C>G (p.His312Gln)
NM_022042.4(SLC26A1):c.951G>A (p.Ser317=)
NM_022042.4(SLC26A1):c.954C>T (p.Ser318=)
NM_022042.4(SLC26A1):c.962G>A (p.Gly321Asp)
NM_022042.4(SLC26A1):c.974C>T (p.Thr325Met)
NM_022042.4(SLC26A1):c.975G>A (p.Thr325=)
NM_022042.4(SLC26A1):c.977G>A (p.Gly326Asp)
NM_022042.4(SLC26A1):c.990_997dup (p.Pro333fs) rs754967651

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