ClinVar Miner

Variants in gene SPTBN2 with conflicting interpretations

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:
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
961 139 0 79 79 0 4 155

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
pathogenic 0 1 1 0 0
likely pathogenic 1 0 3 0 0
uncertain significance 1 3 0 71 14
likely benign 0 0 71 0 78
benign 0 0 14 78 0

All variants with conflicting interpretations #

Total variants: 155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06302
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.05027
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01092
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01090
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00529
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00441
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys) rs36054877 0.00433
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=) rs150696057 0.00419
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00344
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=) rs150080880 0.00239
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=) rs145249947 0.00229
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00206
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00171
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00164
NM_006946.4(SPTBN2):c.3111C>T (p.Asn1037=) rs149124496 0.00145
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00125
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00121
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=) rs143948660 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00075
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00063
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=) rs146526805 0.00053
NM_006946.4(SPTBN2):c.590A>G (p.Asn197Ser) rs148154681 0.00053
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00039
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00038
NM_006946.4(SPTBN2):c.4594-7T>C rs150454036 0.00036
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453 0.00035
NM_006946.4(SPTBN2):c.1482G>T (p.Glu494Asp) rs372109002 0.00028
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=) rs146007976 0.00022
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00021
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln) rs749281906 0.00020
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497 0.00020
NM_006946.4(SPTBN2):c.3516C>T (p.His1172=) rs149829140 0.00018
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=) rs145112518 0.00017
NM_006946.4(SPTBN2):c.6813C>T (p.His2271=) rs545082298 0.00017
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378 0.00016
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp) rs556784868 0.00016
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364 0.00016
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=) rs201821131 0.00016
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys) rs141021167 0.00014
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868 0.00014
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414 0.00014
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln) rs149992317 0.00013
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00013
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=) rs377439463 0.00012
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=) rs572061488 0.00012
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=) rs142489577 0.00012
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385 0.00012
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu) rs199880827 0.00012
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00011
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser) rs375849761 0.00011
NM_006946.4(SPTBN2):c.2382G>A (p.Glu794=) rs368173749 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=) rs368022952 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu) rs144465703 0.00008
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00008
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=) rs777698637 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00006
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=) rs768135548 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=) rs773474294 0.00006
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His) rs529514462 0.00006
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00005
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00005
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val) rs532746761 0.00005
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00005
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu) rs202247290 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp) rs368782432 0.00005
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp) rs773155491 0.00004
NM_006946.4(SPTBN2):c.2745C>T (p.Ala915=) rs144636685 0.00004
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln) rs763770499 0.00004
NM_006946.4(SPTBN2):c.5696G>A (p.Arg1899His) rs201017398 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp) rs761960627 0.00004
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) rs749226138 0.00004
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.2817-8G>T rs142540439 0.00003
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.4396G>A (p.Val1466Met) rs763193925 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_006946.4(SPTBN2):c.6131C>T (p.Thr2044Met) rs199759434 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln) rs763398880 0.00003
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys) rs775007929 0.00003
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=) rs747355437 0.00002
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val) rs367960697 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys) rs771402351 0.00001
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr) rs148016656 0.00001
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=) rs779091056 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu) rs748137168 0.00001
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp) rs890981545 0.00001
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln) rs774653711 0.00001
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp) rs764921928 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=) rs372297351 0.00001
NM_006946.4(SPTBN2):c.7090G>A (p.Glu2364Lys) rs775734881 0.00001
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys) rs372293906 0.00001
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=) rs1456985458 0.00001
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn) rs2135526299
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=) rs141552726
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=) rs371267330
NM_006946.4(SPTBN2):c.5475G>A (p.Pro1825=) rs34806527
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.6502-5C>A rs549378554
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=) rs1941995388

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