ClinVar Miner

List of variants in gene SLC26A4 reported as uncertain significance for not specified

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000441.1(SLC26A4):c.-60A>G rs545973091 0.00034
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_000441.1(SLC26A4):c.-139C>T rs879914861 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.1(SLC26A4):c.-157G>A rs568363861 0.00015
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 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
NC_000007.14:g.107660715C>T rs555168273 0.00005
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val) rs727504813 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000441.2(SLC26A4):c.1263+1841G>A rs771059036 0.00004
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.1545-7del rs727503427 0.00003
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) rs397516425 0.00003
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp) rs775610413 0.00003
NM_000441.2(SLC26A4):c.1300G>A (p.Ala434Thr) rs757552791 0.00002
NM_000441.2(SLC26A4):c.1408C>T (p.Arg470Cys) rs369885379 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
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.1054G>A (p.Ala352Thr) rs397516412 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys) rs780791787 0.00001
NM_000441.2(SLC26A4):c.1243A>G (p.Ser415Gly) rs756818321 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1708-14A>G rs1453109539 0.00001
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519 0.00001
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) rs397516422 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser) rs1057517303 0.00001
NM_000441.2(SLC26A4):c.283G>A (p.Gly95Arg) rs111033398 0.00001
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810 0.00001
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro) rs121908365 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) rs761613436 0.00001
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=) rs765644650 0.00001
NM_000441.2(SLC26A4):c.1002-12A>G rs1554358492
NM_000441.2(SLC26A4):c.1253G>A (p.Gly418Glu) rs727505087
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1283C>T (p.Ala428Val) rs727504824
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1382T>A (p.Met461Lys) rs1554359675
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000441.2(SLC26A4):c.1570A>C (p.Ile524Leu) rs1163642957
NM_000441.2(SLC26A4):c.1592A>C (p.Lys531Thr) rs111033191
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.1698C>G (p.Ile566Met) rs111033375
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys) rs876658003
NM_000441.2(SLC26A4):c.2063T>C (p.Val688Ala) rs727503429
NM_000441.2(SLC26A4):c.209C>T (p.Pro70Leu) rs111033413
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2291del (p.Thr764fs)
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.487G>C (p.Val163Leu)
NM_000441.2(SLC26A4):c.497G>A (p.Ser166Asn)
NM_000441.2(SLC26A4):c.521C>G (p.Thr174Ser) rs876658004
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
NM_000441.2(SLC26A4):c.590G>A (p.Gly197Glu) rs1554354860
NM_000441.2(SLC26A4):c.596T>C (p.Ile199Thr)

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