ClinVar Miner

Variants in gene TYR with conflicting interpretations

See also:
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 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
553 101 0 70 9 2 25 97

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 association other
pathogenic 0 65 11 0 1 1 0
likely pathogenic 65 0 18 0 0 0 0
uncertain significance 11 18 0 5 5 2 1
likely benign 0 0 5 0 6 1 1
benign 1 0 5 6 0 2 1
association 1 0 2 1 2 0 1
other 0 0 1 1 1 1 0

All variants with conflicting interpretations #

Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01433
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00050
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser) rs13312744 0.00032
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00030
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00023
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00009
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.759A>T (p.Gly253=) rs200936835 0.00003
NM_000372.5(TYR):c.1291C>A (p.Pro431Thr) rs368604842 0.00002
NM_000372.5(TYR):c.1366+1G>T rs369610829 0.00002
NM_000372.5(TYR):c.51T>C (p.Ala17=) rs546537919 0.00002
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00002
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys) rs1565392064 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123 0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys) rs149912348 0.00001
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys) rs145610977 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318 0.00001
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys) rs1944765423 0.00001
NM_000372.5(TYR):c.149C>T (p.Ser50Leu) rs61753181 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val) rs1320376090 0.00001
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049 0.00001
NM_000372.5(TYR):c.607G>T (p.Glu203Ter) rs778881311 0.00001
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.863T>C (p.Leu288Ser) rs1463109821 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000372.5(TYR):c.865T>C (p.Cys289Arg) rs1468041471 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000372.5(TYR):c.1037-10del rs747032303
NM_000372.5(TYR):c.1037-10dup rs747032303
NM_000372.5(TYR):c.1037-11_1037-10del rs747032303
NM_000372.5(TYR):c.1037-3C>G rs779929859
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.1130T>C (p.Val377Ala) rs2496618758
NM_000372.5(TYR):c.1184G>A (p.Ser395Asn) rs752344007
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1199G>A (p.Trp400Ter) rs62645916
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000372.5(TYR):c.155G>T (p.Arg52Ile) rs61753182
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000372.5(TYR):c.178_179del (p.Leu60fs) rs2496528211
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.308G>T (p.Cys103Phe) rs1943252098
NM_000372.5(TYR):c.334T>C (p.Cys112Arg)
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.404_621del (p.Phe135fs) rs2496529123
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.530T>A (p.Val177Asp) rs571810545
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.706T>C (p.Trp236Arg) rs2135242624
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415

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