ClinVar Miner

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

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Gene type:
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Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1160C>A (p.Ala387Asp) rs777333979 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.277A>C (p.Ser93Arg) rs1318905318 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_000441.2(SLC26A4):c.755C>T (p.Ser252Phe) rs375433525 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NC_000007.13:g.(?_107329488)_(107353077_?)dup
NC_000007.13:g.(?_107336368)_(107355960_?)del
NC_000007.14:g.(?_107674154)_(107683567_?)dup
NM_000441.2(SLC26A4):c.1027G>C (p.Val343Leu)
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp) rs1057518006
NM_000441.2(SLC26A4):c.1159G>T (p.Ala387Ser)
NM_000441.2(SLC26A4):c.1206G>A (p.Val402=) rs887436159
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1228A>G (p.Thr410Ala) rs1286976213
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys) rs111033220
NM_000441.2(SLC26A4):c.1238A>T (p.Gln413Leu)
NM_000441.2(SLC26A4):c.1259C>T (p.Thr420Ile)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1270G>C (p.Gly424Arg)
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp) rs1791675770
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
NM_000441.2(SLC26A4):c.1342-1G>A
NM_000441.2(SLC26A4):c.1370A>G (p.Asn457Ser)
NM_000441.2(SLC26A4):c.1437+1G>A rs2129316961
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.1541A>C (p.Gln514Pro)
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1545-1G>A
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1588T>G (p.Tyr530Asp)
NM_000441.2(SLC26A4):c.1614+5G>A
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.1707+2T>G rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1734TAA[1] (p.Asn579del)
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1976T>C (p.Val659Ala)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.1999T>C (p.Phe667Leu)
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2027T>C (p.Leu676Pro) rs111033318
NM_000441.2(SLC26A4):c.2034+1G>A rs759683649
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) rs2129309202
NM_000441.2(SLC26A4):c.290T>A (p.Val97Glu)
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.305-1G>C rs1243584839
NM_000441.2(SLC26A4):c.305-2A>G
NM_000441.2(SLC26A4):c.316G>A (p.Ala106Thr) rs2129311226
NM_000441.2(SLC26A4):c.335C>T (p.Pro112Leu) rs2129311240
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp) rs2129311246
NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val) rs2129311246
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.398C>T (p.Ser133Leu) rs2129311271
NM_000441.2(SLC26A4):c.415+1G>C rs2129311278
NM_000441.2(SLC26A4):c.416-2A>C
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
NM_000441.2(SLC26A4):c.439A>C (p.Met147Leu) rs760413427
NM_000441.2(SLC26A4):c.466G>C (p.Ala156Pro)
NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs) rs1584306754
NM_000441.2(SLC26A4):c.691G>A (p.Val231Met) rs483353047
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.692T>C (p.Val231Ala)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.765+3A>C rs483353048
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.84C>G (p.Ser28Arg)
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.908A>G (p.Glu303Gly)
NM_000441.2(SLC26A4):c.919-2A>C

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