ClinVar Miner

Variants in gene SPTA1 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 Variants with at least 2 submissions 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 kind of conflict
43 152 0 49 10 0 3 54

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 3 0 2 2
likely pathogenic 3 0 1 1 1
uncertain significance 0 1 0 10 5
likely benign 2 1 10 0 46
benign 2 1 5 46 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_003126.3(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563
NM_003126.3(SPTA1):c.126C>T (p.Val42=) rs435080
NM_003126.3(SPTA1):c.1350+14A>T rs703116
NM_003126.3(SPTA1):c.137G>T (p.Gly46Val) rs121918638
NM_003126.3(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436
NM_003126.3(SPTA1):c.2102G>A (p.Arg701His) rs12090314
NM_003126.3(SPTA1):c.2353C>A (p.Arg785=) rs2022057
NM_003126.3(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.3(SPTA1):c.24+3A>G rs2564858
NM_003126.3(SPTA1):c.2425A>G (p.Ile809Val) rs7547313
NM_003126.3(SPTA1):c.2493T>G (p.Leu831=) rs2518493
NM_003126.3(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052
NM_003126.3(SPTA1):c.2757A>G (p.Glu919=) rs16840450
NM_003126.3(SPTA1):c.2870C>T (p.Ala957Val) rs34706737
NM_003126.3(SPTA1):c.2874G>A (p.Leu958=) rs857691
NM_003126.3(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326
NM_003126.3(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260
NM_003126.3(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175
NM_003126.3(SPTA1):c.3477+15C>T rs369904982
NM_003126.3(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965
NM_003126.3(SPTA1):c.3570-12C>T rs2246434
NM_003126.3(SPTA1):c.3693C>T (p.Asp1231=) rs34773716
NM_003126.3(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405
NM_003126.3(SPTA1):c.4195-12G>A rs6702040
NM_003126.3(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695
NM_003126.3(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523
NM_003126.3(SPTA1):c.454G>A (p.Asp152Asn) rs16840544
NM_003126.3(SPTA1):c.460_462dup (p.Leu154dup) rs757679761
NM_003126.3(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931
NM_003126.3(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725
NM_003126.3(SPTA1):c.5118C>T (p.His1706=) rs200945419
NM_003126.3(SPTA1):c.5292C>A (p.Ala1764=) rs3738791
NM_003126.3(SPTA1):c.54G>A (p.Leu18=) rs199690643
NM_003126.3(SPTA1):c.5507A>G (p.Asn1836Ser) rs16830483
NM_003126.3(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003126.3(SPTA1):c.5958C>T (p.Pro1986=) rs3753068
NM_003126.3(SPTA1):c.5992G>C (p.Ala1998Pro) rs77877855
NM_003126.3(SPTA1):c.6046C>T (p.Arg2016Cys) rs78394850
NM_003126.3(SPTA1):c.6112C>T (p.Leu2038=) rs75931146
NM_003126.3(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271
NM_003126.3(SPTA1):c.6531-12C>T rs28525570
NM_003126.3(SPTA1):c.6549-12G>A rs857716
NM_003126.3(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003126.3(SPTA1):c.6789-8del rs5778083
NM_003126.3(SPTA1):c.6789-8dup rs5778083
NM_003126.3(SPTA1):c.6789-9_6789-8dup rs5778083
NM_003126.3(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094
NM_003126.3(SPTA1):c.7095A>G (p.Ala2365=) rs2251969
NM_003126.3(SPTA1):c.779T>C (p.Leu260Pro) rs121918634
NM_003126.3(SPTA1):c.813-7A>T rs325995
NM_003126.3(SPTA1):c.867T>C (p.Ser289=) rs12083637
NM_003126.3(SPTA1):c.915T>C (p.Ser305=) rs703121
NM_003126.3(SPTA1):c.942T>A (p.Ala314=) rs325996
NM_003126.3(SPTA1):c.958-10C>A rs12085628

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