ClinVar Miner

Variants with conflicting interpretations studied for Mucopolysaccharidosis, MPS-III-A

Coded as:
Minimum review status of the submission for Mucopolysaccharidosis, MPS-III-A: Collection method of the submission for Mucopolysaccharidosis, MPS-III-A:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
878 132 0 87 57 0 29 159

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-III-A pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 79 13 0 0
likely pathogenic 79 0 26 0 0
uncertain significance 13 26 0 52 9
likely benign 0 0 52 0 8
benign 0 0 9 8 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-III-A 878 132 0 87 57 0 29 159

All variants with conflicting interpretations #

Total variants: 159
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00172
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00137
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00090
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00048
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00042
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971 0.00033
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00027
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087 0.00025
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 0.00019
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00013
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00010
NM_000199.5(SGSH):c.506+9C>T rs376523398 0.00009
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187 0.00009
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00009
NM_000199.5(SGSH):c.720C>T (p.Tyr240=) rs367654527 0.00007
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.410C>T (p.Ala137Val) rs367805575 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306 0.00004
NM_000199.5(SGSH):c.89-10C>T rs766929408 0.00004
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00003
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239 0.00002
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983 0.00002
NM_000199.5(SGSH):c.250-2A>G rs745319635 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) rs1459579613 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.1356C>T (p.Ala452=) rs2041601835 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=) rs757563981 0.00001
NM_000199.5(SGSH):c.1500T>C (p.Asn500=) rs771923742 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949 0.00001
NM_000199.5(SGSH):c.258T>C (p.Asn86=) rs1425717342 0.00001
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser) rs1211675075 0.00001
NM_000199.5(SGSH):c.355+9C>T rs746912493 0.00001
NM_000199.5(SGSH):c.356-6G>A rs764808311 0.00001
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363 0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.873T>C (p.Ala291=) rs940286213 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs) rs1567915763
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1195G>C (p.Asp399His)
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter) rs146522699
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter) rs755951235
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter) rs2144689256
NM_000199.5(SGSH):c.1426del (p.His476fs) rs2041597805
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu) rs104894637
NM_000199.5(SGSH):c.210C>T (p.Cys70=) rs2144781434
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser) rs104894636
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter) rs1293427858
NM_000199.5(SGSH):c.2T>G (p.Met1Arg) rs1488660868
NM_000199.5(SGSH):c.301_303del (p.Phe101del) rs1567924625
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.398del (p.Pro133fs) rs2144749648
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter) rs2510893525
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn) rs774773010
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu) rs2510890872
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter) rs373031930
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.637dup (p.Gln213fs) rs2144742329
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter) rs151227799
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.681C>T (p.Pro227=) rs2041774244
NM_000199.5(SGSH):c.691_698del (p.Ala231fs) rs761216892
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.757del (p.Val253fs) rs760281672
NM_000199.5(SGSH):c.7_16del (p.Cys3fs) rs2510930697
NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.88+10G>A rs2042098570
NM_000199.5(SGSH):c.885G>T (p.Leu295=) rs2510873451
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000199.5(SGSH):c.949+1G>A rs766840480
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile) rs747197522
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388

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