ClinVar Miner

Variants with conflicting interpretations studied for Autosomal recessive nonsyndromic hearing loss 4

Coded as:
Minimum review status of the submission for Autosomal recessive nonsyndromic hearing loss 4: Collection method of the submission for Autosomal recessive nonsyndromic hearing loss 4:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
453 51 0 44 13 40 15 92

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.

All conditions
Autosomal recessive nonsyndromic hearing loss 4 pathogenic likely pathogenic uncertain significance likely benign benign affects other
pathogenic 0 44 7 0 0 29 1
likely pathogenic 44 0 12 1 0 15 2
uncertain significance 7 12 0 13 0 4 4
likely benign 0 1 13 0 0 0 1
benign 0 0 0 0 0 0 1
affects 29 15 4 0 0 0 0
other 1 2 4 1 1 0 0

Condition to condition summary #

Total conditions: 1
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Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Autosomal recessive nonsyndromic hearing loss 4 453 51 0 44 13 40 15 92

All variants with conflicting interpretations #

Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1149+1G>A
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234

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