ClinVar Miner

Variants with conflicting interpretations studied for Tay-Sachs disease

Coded as:
Minimum review status of the submission for Tay-Sachs disease: Collection method of the submission for Tay-Sachs disease:
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
997 128 0 119 25 0 21 150

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.

All conditions
Tay-Sachs disease pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 110 13 1 1
likely pathogenic 110 0 17 0 0
uncertain significance 13 17 0 24 5
likely benign 1 0 24 0 9
benign 1 0 5 9 0

Condition to condition summary #

Total conditions: 2
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
Tay-Sachs disease 997 128 0 119 25 0 21 150
TAY-SACHS DISEASE, JUVENILE 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 150
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00405
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00156
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00096
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00052
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00029
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00014
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00008
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00008
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00007
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000520.6(HEXA):c.1146+18A>G rs1555472543 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000520.6(HEXA):c.1088dup (p.Ser364fs) rs1734738637 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs) rs772879726 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.460-2A>G rs547177633 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=) rs1188885214 0.00001
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424 0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977 0.00001
NM_000520.6(HEXA):c.909A>G (p.Thr303=) rs2088661576 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000520.6(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.6(HEXA):c.1014del (p.Phe338fs) rs2542520518
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter) rs2542520335
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter) rs779456035
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1080G>A (p.Leu360=) rs1344084494
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs) rs2542514845
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1220del (p.Val407fs) rs2140320741
NM_000520.6(HEXA):c.1257dup (p.Trp420fs) rs2542514275
NM_000520.6(HEXA):c.1258del (p.Trp420fs) rs1216659000
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1331-5C>T rs1398769778
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1364del (p.Gly455fs) rs2542512849
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val) rs375019490
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter) rs1239101618
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) rs987921756
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421+7del rs747378954
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.1437T>C (p.Ala479=) rs2140319660
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.147T>C (p.Asp49=) rs2542581903
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1543C>T (p.Gln515Ter)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.213G>C (p.Leu71=) rs2140344454
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) rs1407480461
NM_000520.6(HEXA):c.226_242del (p.Gly76fs) rs2140344404
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.422del (p.Thr141fs) rs2088733629
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.440G>A (p.Trp147Ter)
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer) rs2088690482
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000520.6(HEXA):c.749del (p.Gly250fs) rs1190309903
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter) rs2542526228
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) rs786204515
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly) rs2088660373
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys) rs2542520592

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