ClinVar Miner

Variants with conflicting interpretations studied for Mucopolysaccharidosis, MPS-II

Coded as:
Minimum review status of the submission for Mucopolysaccharidosis, MPS-II: Collection method of the submission for Mucopolysaccharidosis, MPS-II:
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
1023 154 0 100 8 13 34 140

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
Mucopolysaccharidosis, MPS-II pathogenic likely pathogenic uncertain significance likely benign benign affects
pathogenic 0 89 6 2 3 10
likely pathogenic 89 0 19 5 9 10
uncertain significance 6 19 0 6 2 0
likely benign 2 5 6 0 12 0
benign 3 9 2 12 0 0
affects 10 10 0 0 0 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
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
Mucopolysaccharidosis, MPS-II 1023 154 0 100 8 13 34 140

All variants with conflicting interpretations #

Total variants: 140
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00004
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00002
NM_000202.8(IDS):c.1007-4C>T rs781947914 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu) rs2089343063
NM_000202.8(IDS):c.1030G>A (p.Glu344Lys)
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser) rs2089342988
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys)
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.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
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.1300G>A (p.Glu434Lys)
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
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.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)
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.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
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)
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.1494del (p.Arg498fs)
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.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)
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)
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
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.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)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
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)
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.442G>A (p.Asp148Asn)
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000202.8(IDS):c.590C>T (p.Pro197Leu) rs2089451912
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.685C>T (p.His229Tyr)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.692C>T (p.Pro231Leu) rs2089450305
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.748G>A (p.Ala250Thr)
NM_000202.8(IDS):c.795C>A (p.Asn265Lys) rs1207417919
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
NM_000202.8(IDS):c.877C>T (p.Gln293Ter)
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000202.8(IDS):c.998C>G (p.Ser333Trp) rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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