ClinVar Miner

Variants in gene IDUA 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
1323 187 0 88 52 2 18 150

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 other
pathogenic 0 74 6 0 0 0
likely pathogenic 74 0 15 0 0 0
uncertain significance 6 15 0 51 6 0
likely benign 0 0 51 0 14 0
benign 0 0 6 14 0 2
other 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 150
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00809
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00139
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00076
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189 0.00057
NM_000203.5(IDUA):c.493+7G>A rs200509712 0.00052
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00042
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser) rs144941693 0.00024
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000203.5(IDUA):c.1863A>C (p.Arg621=) rs762586 0.00015
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00015
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00007
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00007
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342 0.00006
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00005
NM_000203.5(IDUA):c.1728-9C>T rs374775605 0.00005
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00005
NM_000203.5(IDUA):c.1403-1G>T rs4690223 0.00004
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083 0.00004
NM_000203.5(IDUA):c.536C>T (p.Thr179Met) rs776098539 0.00004
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723 0.00004
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00002
NM_000203.5(IDUA):c.1402+8G>A rs1315308939 0.00002
NM_000203.5(IDUA):c.1727+4C>T rs1202966289 0.00002
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.793-5C>T rs773072991 0.00002
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1398C>T (p.Gly466=) rs1370338557 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1403-11A>G rs1335436961 0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.1524+1G>A rs1553917483 0.00001
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566 0.00001
NM_000203.5(IDUA):c.1722C>T (p.Gly574=) rs1307428521 0.00001
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr) rs398123257 0.00001
NM_000203.5(IDUA):c.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs) rs1292032609 0.00001
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994 0.00001
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys) rs754154200 0.00001
NM_000203.5(IDUA):c.603C>T (p.Tyr201=) rs766574778 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000203.5(IDUA):c.784C>T (p.His262Tyr) rs375305122 0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030 0.00001
NM_000203.5(IDUA):c.972+8G>A rs774327124 0.00001
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp) rs747827435
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys) rs121965032
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg) rs121965032
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro) rs751547595
NM_000203.5(IDUA):c.1149C>T (p.Arg383=) rs767632084
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-1del rs2534092221
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1240del (p.Ser414fs)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter) rs1463087550
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1395dup (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1491G>A (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1650+12T>C rs1715248390
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-7C>A rs934115207
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1707G>T (p.Ser569=) rs764370443
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1727+5G>A
NM_000203.5(IDUA):c.1727+9G>T rs771420258
NM_000203.5(IDUA):c.1779C>A (p.Thr593=) rs2153023191
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter) rs867456178
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1815dup (p.Val606fs) rs2153023210
NM_000203.5(IDUA):c.1828+1G>A
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1867C>T (p.Leu623=) rs753180581
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs) rs1715314710
NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del) rs1470115977
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter) rs577729544
NM_000203.5(IDUA):c.394C>T (p.Leu132=) rs1480225127
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.408C>G (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.474C>T (p.Ser158=) rs1473137019
NM_000203.5(IDUA):c.493+6C>G rs376738689
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys) rs992336192
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn) rs2153021976
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly) rs140294059
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr) rs1715086540
NM_000203.5(IDUA):c.618G>A (p.Ser206=) rs377312287
NM_000203.5(IDUA):c.630del (p.Ala211fs) rs1560546897
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys) rs2534087208
NM_000203.5(IDUA):c.837C>T (p.Val279=) rs758749484
NM_000203.5(IDUA):c.855G>A (p.Gln285=) rs781622799
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097

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