ClinVar Miner

Variants in gene IDS 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:

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
570 87 0 64 7 6 21 86

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 affects
pathogenic 0 54 3 2 1 4
likely pathogenic 54 0 16 2 2 6
uncertain significance 3 16 0 5 2 0
likely benign 2 2 5 0 10 0
benign 1 2 2 10 0 0
affects 4 6 0 0 0 0

All variants with conflicting interpretations #

Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.418+12T>C rs470986 0.00736
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00115
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00081
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00020
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00011
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00010
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00007
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.103G>C (p.Asp35His) rs2089514224
NM_000202.8(IDS):c.104-1_104delinsT rs2089505743
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1294T>C (p.Cys432Arg)
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys) rs2520757198
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1334G>A (p.Arg445His) rs782371096
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.134A>G (p.Asp45Gly) rs2520901934
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1402del (p.Arg468fs) rs2123994397
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) rs113993946
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) rs2089305217
NM_000202.8(IDS):c.142C>T (p.Arg48Cys) rs1412895796
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr) rs782430567
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr) rs2520754446
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.1493G>C (p.Arg498Thr) rs1557337595
NM_000202.8(IDS):c.1494del (p.Arg498fs) rs2520754068
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys) rs2124648374
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.1600A>C (p.Asn534His)
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.182C>T (p.Ser61Phe) rs2124065955
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del) rs2520900881
NM_000202.8(IDS):c.239A>G (p.Gln80Arg) rs2520900502
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_000202.8(IDS):c.245C>T (p.Ala82Val)
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.253G>T (p.Ala85Ser)
NM_000202.8(IDS):c.254C>A (p.Ala85Asp)
NM_000202.8(IDS):c.260G>A (p.Ser87Asn)
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.305T>C (p.Leu102Pro) rs1557340261
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) rs2089496667
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.353C>T (p.Thr118Ile) rs2520895871
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.359C>T (p.Pro120Leu)
NM_000202.8(IDS):c.400G>A (p.Gly134Arg) rs2520895308
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.412C>T (p.His138Tyr)

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.