ClinVar Miner

Variants in gene SPTAN1 with conflicting interpretations

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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
2386 81 0 72 49 0 2 109

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 6 1 0 0
likely pathogenic 6 0 1 0 1
uncertain significance 1 1 0 38 20
likely benign 0 0 38 0 66
benign 0 1 20 66 0

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71407
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22153
NM_001130438.3(SPTAN1):c.2872-42G>A rs4307429 0.02839
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_001130438.3(SPTAN1):c.1462-27T>A rs7040737 0.02284
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539 0.01980
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 0.00050
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298

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