ClinVar Miner

List of variants in gene SLC26A4 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 43
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HGVS dbSNP
NM_000441.1(SLC26A4):c.-3-2A>G rs397516411
NM_000441.1(SLC26A4):c.1001+1G>A rs80338849
NM_000441.1(SLC26A4):c.1149+3A>G rs111033314
NM_000441.1(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.1(SLC26A4):c.1198delT (p.Cys400Valfs) rs397516413
NM_000441.1(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.1(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.1(SLC26A4):c.1264-1G>C rs111033311
NM_000441.1(SLC26A4):c.1284_1286delTGC (p.Ala429del) rs111033306
NM_000441.1(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.1(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416
NM_000441.1(SLC26A4):c.1341+1delG (p.Lys447Asnfs) rs397516417
NM_000441.1(SLC26A4):c.1342-2_1343dupAGTC rs111033407
NM_000441.1(SLC26A4):c.1437+2T>G rs397516418
NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.1(SLC26A4):c.1544+1G>A rs876657722
NM_000441.1(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.1(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.1(SLC26A4):c.1614+1G>A rs111033312
NM_000441.1(SLC26A4):c.1614+1G>C rs111033312
NM_000441.1(SLC26A4):c.164+2T>C rs397516420
NM_000441.1(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000441.1(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.1(SLC26A4):c.2089+1G>A rs727503430
NM_000441.1(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.1(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.1(SLC26A4):c.2188C>T (p.Gln730Ter) rs397516428
NM_000441.1(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.1(SLC26A4):c.2224delA (p.Ile742Phefs) rs876657723
NM_000441.1(SLC26A4):c.294_298delCACGC (p.Thr99Alafs) rs111033241
NM_000441.1(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.1(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.1(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.1(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.1(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430
NM_000441.1(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.1(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.1(SLC26A4):c.765+2T>C rs397516432
NM_000441.1(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.1(SLC26A4):c.919-2A>G rs111033313

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