ClinVar Miner

List of variants in gene SLC26A4 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.304+316C>T rs2701686 0.75222
NM_000441.2(SLC26A4):c.165-119A>T rs2248464 0.75124
NM_000441.2(SLC26A4):c.601-266T>G rs3817613 0.73053
NM_000441.2(SLC26A4):c.165-113C>T rs2248465 0.70026
NM_000441.2(SLC26A4):c.1264-187C>T rs2072065 0.45793
NM_000441.2(SLC26A4):c.2035-210C>T rs6955309 0.45116
NM_000441.2(SLC26A4):c.1264-335T>A rs2072064 0.20616
NM_000441.2(SLC26A4):c.765+194A>G rs796938107 0.08403
NM_000441.2(SLC26A4):c.1150-135C>T rs2072063 0.05099
NM_000441.2(SLC26A4):c.-4+90T>G rs73191607 0.04621
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_000441.2(SLC26A4):c.1707+76G>C rs17154331 0.03636
NM_000441.2(SLC26A4):c.1707+211T>C rs76779706 0.03623
NM_000441.2(SLC26A4):c.1263+319T>C rs77056079 0.02613
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_000441.2(SLC26A4):c.2236-151G>T rs78318785 0.02406
NM_000441.2(SLC26A4):c.-3-261C>T rs55753070 0.01859
NM_000441.2(SLC26A4):c.416-196C>T rs55943182 0.01761
NM_000441.2(SLC26A4):c.164+150T>A rs17154285 0.01613
NM_000441.2(SLC26A4):c.1437+187T>G rs74576945 0.01573
NM_000441.2(SLC26A4):c.1438-258G>T rs116496816 0.01573
NM_000441.2(SLC26A4):c.1001+168A>G rs28566998 0.01549
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000441.2(SLC26A4):c.1438-154C>T rs115966090 0.01285
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.2034+132G>A rs59398869 0.01053
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_000441.2(SLC26A4):c.2035-222T>C rs78333072 0.00910
NM_000441.2(SLC26A4):c.2089+123T>C rs115695710 0.00907
NM_000441.2(SLC26A4):c.1438-14A>G rs79531981 0.00882
NM_000441.2(SLC26A4):c.*614C>T rs77315223 0.00874
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_000441.2(SLC26A4):c.2320-123T>C rs60170932 0.00854
NM_000441.2(SLC26A4):c.*806A>G rs116342061 0.00848
NM_000441.2(SLC26A4):c.1149+191T>A rs56782513 0.00798
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_000441.2(SLC26A4):c.765+249T>C rs111738512 0.00768
NM_000441.2(SLC26A4):c.2090-196G>T rs192400305 0.00691
NM_000441.2(SLC26A4):c.2235+154A>G rs147416138 0.00690
NM_000441.2(SLC26A4):c.2235+306C>T rs116656171 0.00682
NM_000441.2(SLC26A4):c.1804-87T>G rs149124215 0.00679
NM_000441.2(SLC26A4):c.2034+167C>G rs138602690 0.00674
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000441.2(SLC26A4):c.416-181dup rs200997540 0.00669
NM_000441.2(SLC26A4):c.2089+178T>C rs144209695 0.00618
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.1804-130C>T rs114455341 0.00538
NM_000441.2(SLC26A4):c.1264-232G>A rs79167785 0.00537
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_000441.2(SLC26A4):c.1437+110A>G rs55727139 0.00521
NM_000441.2(SLC26A4):c.2236-165T>C rs146594737 0.00491
NM_000441.2(SLC26A4):c.2034+53T>C rs143022143 0.00489
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_000441.2(SLC26A4):c.600+83C>G rs75466362 0.00402
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_000441.2(SLC26A4):c.*692C>A rs78809647 0.00369
NM_000441.2(SLC26A4):c.2236-130A>G rs114740744 0.00344
NM_000441.2(SLC26A4):c.1341+47T>C rs17154326 0.00317
NM_000441.2(SLC26A4):c.601-17C>T rs78330939 0.00296
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_000441.2(SLC26A4):c.1263+35G>T rs373823323 0.00232
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792 0.00116
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_000441.2(SLC26A4):c.2236-25T>A rs2301634 0.00026
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NC_000007.14:g.107660808G>A rs895608913 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000441.2(SLC26A4):c.1804-6G>A rs377713770 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=) rs140918297 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.1002-26G>A rs778915722 0.00005
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1545-7del rs727503427 0.00003
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) rs573894071 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile) rs180671153 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1751C>T (p.Ala584Val) rs749479853 0.00002
NM_000441.2(SLC26A4):c.183C>T (p.Ala61=) rs778574810 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=) rs768687579 0.00001
NM_000441.2(SLC26A4):c.1445G>C (p.Trp482Ser) rs774182356 0.00001
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677 0.00001
NM_000441.2(SLC26A4):c.1545-3T>C rs1449532089 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.1709T>C (p.Val570Ala) rs775256637 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser) rs1057517303 0.00001
NM_000441.2(SLC26A4):c.2235G>A (p.Thr745=) rs748353957 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.277A>C (p.Ser93Arg) rs1318905318 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.401G>T (p.Arg134Ile) rs1790889845 0.00001
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val) rs759268252 0.00001
NM_000441.2(SLC26A4):c.416-12T>A rs751972640 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.65T>C (p.Val22Ala) rs1790557992 0.00001
NM_000441.2(SLC26A4):c.765+5G>A rs947864801 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.-3-109dup rs200483647
NM_000441.2(SLC26A4):c.-3-195C>T rs55706020
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.1000G>T (p.Gly334Trp)
NM_000441.2(SLC26A4):c.1001+131G>T rs2395911
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1036T>A (p.Phe346Ile) rs1269617308
NM_000441.2(SLC26A4):c.1072G>A (p.Val358Met)
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp) rs1057518006
NM_000441.2(SLC26A4):c.1121A>G (p.Lys374Arg)
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1206G>A (p.Val402=) rs887436159
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1320G>T (p.Lys440Asn)
NM_000441.2(SLC26A4):c.1321C>T (p.Leu441Phe)
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.1438-105del rs367623525
NM_000441.2(SLC26A4):c.1438-320C>A rs2188561
NM_000441.2(SLC26A4):c.1438-7dup rs753586849
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.1528G>T (p.Val510Phe) rs2129317161
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1545-14_1545-12del rs397516419
NM_000441.2(SLC26A4):c.154A>G (p.Lys52Glu)
NM_000441.2(SLC26A4):c.1615-140del rs35161285
NM_000441.2(SLC26A4):c.1615-141_1615-140del rs35161285
NM_000441.2(SLC26A4):c.1615-142_1615-140del rs35161285
NM_000441.2(SLC26A4):c.1617T>G (p.Ile539Met) rs1276433236
NM_000441.2(SLC26A4):c.1618G>A (p.Glu540Lys)
NM_000441.2(SLC26A4):c.1624C>A (p.Pro542Thr)
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1734TAA[1] (p.Asn579del)
NM_000441.2(SLC26A4):c.181G>T (p.Ala61Ser) rs139623905
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) rs1554361014
NM_000441.2(SLC26A4):c.1971C>A (p.Ser657Arg) rs1336642579
NM_000441.2(SLC26A4):c.1976T>C (p.Val659Ala)
NM_000441.2(SLC26A4):c.1979T>C (p.Leu660Pro) rs2129318274
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2089+3A>G rs753682653
NM_000441.2(SLC26A4):c.2089+4A>G rs778518135
NM_000441.2(SLC26A4):c.2206C>T (p.Gln736Ter) rs1057524176
NM_000441.2(SLC26A4):c.2235+135dup rs111316118
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer) rs767671344
NM_000441.2(SLC26A4):c.2320-173_2320-172del rs369432913
NM_000441.2(SLC26A4):c.2320-173_2320-172dup rs369432913
NM_000441.2(SLC26A4):c.2320-186C>A rs1332897566
NM_000441.2(SLC26A4):c.2323A>G (p.Met775Val)
NM_000441.2(SLC26A4):c.2335G>C (p.Ala779Pro)
NM_000441.2(SLC26A4):c.25G>A (p.Glu9Lys)
NM_000441.2(SLC26A4):c.290T>C (p.Val97Ala)
NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter) rs1562818685
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.415+75T>C rs112741843
NM_000441.2(SLC26A4):c.416-123C>A rs145124941
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416-7del rs765579453
NM_000441.2(SLC26A4):c.424C>T (p.Pro142Ser) rs749325776
NM_000441.2(SLC26A4):c.454G>A (p.Val152Ile)
NM_000441.2(SLC26A4):c.527T>C (p.Ile176Thr)
NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs) rs1584306754
NM_000441.2(SLC26A4):c.637A>T (p.Arg213Trp)
NM_000441.2(SLC26A4):c.664G>T (p.Gly222Cys)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=) rs2129311968
NM_000441.2(SLC26A4):c.765+196_765+197del rs60022317
NM_000441.2(SLC26A4):c.765+196_765+197dup
NM_000441.2(SLC26A4):c.765+196_765+197insGAA rs55868791
NM_000441.2(SLC26A4):c.765+197del rs60022317
NM_000441.2(SLC26A4):c.765+197dup rs60022317
NM_000441.2(SLC26A4):c.765+232dup rs144378387
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.895C>T (p.Pro299Ser) rs2129314504
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231

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