ClinVar Miner

Variants in gene SLC26A4 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
250 89 5 63 14 0 11 87

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 47 3 0 0
likely pathogenic 47 0 11 0 0
uncertain significance 3 11 0 14 1
likely benign 0 0 14 0 16
benign 0 0 1 16 0

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP
NM_000441.1(SLC26A4):c.-3-2A>G rs397516411
NM_000441.1(SLC26A4):c.-66C>G rs17154282
NM_000441.1(SLC26A4):c.1001+1G>A rs80338849
NM_000441.1(SLC26A4):c.1001+1G>T rs80338849
NM_000441.1(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.1(SLC26A4):c.1002-9A>C rs10234822
NM_000441.1(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.1(SLC26A4):c.1050G>A (p.Leu350=) rs727504993
NM_000441.1(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.1(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.1(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.1(SLC26A4):c.1198delT (p.Cys400Valfs) rs397516413
NM_000441.1(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
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.1262A>G (p.Gln421Arg) rs201660407
NM_000441.1(SLC26A4):c.1264-1G>C rs111033311
NM_000441.1(SLC26A4):c.1284_1286delTGC (p.Ala429del) rs111033306
NM_000441.1(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416
NM_000441.1(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.1(SLC26A4):c.1437+2T>G rs397516418
NM_000441.1(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789
NM_000441.1(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.1(SLC26A4):c.1488C>T (p.Leu496=) rs77407094
NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.1(SLC26A4):c.1520delT (p.Leu507Terfs) rs786204601
NM_000441.1(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.1(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.1(SLC26A4):c.1544+1G>A rs876657722
NM_000441.1(SLC26A4):c.1545-5T>G rs77944876
NM_000441.1(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.1(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.1(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.1(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.1(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.1(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.1(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.1(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.1(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.1(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.1(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.1(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.1(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.1(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.1(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.1(SLC26A4):c.2089+1G>A rs727503430
NM_000441.1(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308
NM_000441.1(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
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.2190G>T (p.Gln730His) rs142723249
NM_000441.1(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.1(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.1(SLC26A4):c.2320-4A>C rs727503432
NM_000441.1(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.1(SLC26A4):c.279delT (p.Ser93Argfs) rs786204421
NM_000441.1(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.1(SLC26A4):c.294_298delCACGC (p.Thr99Alafs) rs111033241
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.365dup (p.Ile124Tyrfs) rs786204730
NM_000441.1(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.1(SLC26A4):c.3G>C (p.Met1Ile) rs786204426
NM_000441.1(SLC26A4):c.416-16G>T rs114992866
NM_000441.1(SLC26A4):c.416-7T>C rs111033387
NM_000441.1(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.1(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.1(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430
NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
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.796G>A (p.Asp266Asn) rs138462416
NM_000441.1(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000441.1(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000441.1(SLC26A4):c.849G>C (p.Met283Ile) rs146348818
NM_000441.1(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299
NM_000441.1(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.1(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000441.1(SLC26A4):c.918+2T>C rs912147281
NM_000441.1(SLC26A4):c.919-2A>G rs111033313
NM_000441.1(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265
NM_000441.1(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.