ClinVar Miner

List of variants in gene SLC26A4 reported as pathogenic for not provided

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Gene type:
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Total variants: 109
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HGVS dbSNP
NC_000007.13:g.(?_107300698_107303849del
NC_000007.13:g.(?_107301201)_(107324012_?)del
NC_000007.13:g.(?_107303728)_(107303890_?)del
NC_000007.14:g.(?_107660756)_(107661815_?)del
NC_000007.14:g.(?_107694391)_(107696049_?)del
NC_000007.14:g.(?_107704321)_(107704395_?)del
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001+2T>A
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1150-1G>A
NM_000441.2(SLC26A4):c.1150-1G>T
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1171A>C (p.Ser391Arg)
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1194_1198del (p.Phe398fs)
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs) rs886043058
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312
NM_000441.2(SLC26A4):c.1614+1G>T
NM_000441.2(SLC26A4):c.1615-2A>G
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1645A>T (p.Arg549Ter)
NM_000441.2(SLC26A4):c.165-1G>A rs759792660
NM_000441.2(SLC26A4):c.1692del (p.Lys564fs) rs746427774
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
NM_000441.2(SLC26A4):c.1711G>T (p.Gly571Ter)
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs)
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2139del (p.Arg714fs)
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
NM_000441.2(SLC26A4):c.2177_2187del (p.Ile726fs)
NM_000441.2(SLC26A4):c.2206C>T (p.Gln736Ter) rs1057524176
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter) rs1562818685
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.365del (p.Phe122fs)
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.382_384delinsAA (p.Phe128fs) rs886044696
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.412_415+17del
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.599del (p.Gln200fs)
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.675del (p.Ala226fs)
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.918+1G>C
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000441.2(SLC26A4):c.941C>G (p.Ser314Ter)
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231

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