ClinVar Miner

Variants with conflicting interpretations studied for Spherocytosis

Coded as:
Minimum review status of the submission for Spherocytosis: Collection method of the submission for Spherocytosis:
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
104 30 0 13 64 0 0 77

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
Spherocytosis likely pathogenic likely benign benign
pathogenic 1 0 0
uncertain significance 0 54 25
likely benign 0 0 12

Condition to condition summary #

Total conditions: 3
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
not provided 0 32 0 13 60 0 0 73
not specified 0 11 0 11 10 0 0 21
ANK1-related disorder 0 0 0 0 13 0 0 13

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04478
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04158
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03689
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02283
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01293
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01215
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01135
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00725
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00452
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00401
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00392
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00345
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00114
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00105
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00067
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00054
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00042
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00040
NM_000037.4(ANK1):c.229-11A>G rs372152994 0.00035
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751 0.00033
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00030
NM_000037.4(ANK1):c.1503C>T (p.Thr501=) rs145793923 0.00029
NM_000037.4(ANK1):c.3984+9A>G rs369984591 0.00029
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699 0.00021
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829 0.00019
NM_000037.4(ANK1):c.3533-10G>A rs374510116 0.00019
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364 0.00016
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln) rs140231188 0.00015
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283 0.00014
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400 0.00014
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406 0.00013
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621 0.00011
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303 0.00011
NM_000037.4(ANK1):c.3984+12C>T rs200019819 0.00011
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802 0.00009
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644 0.00009
NM_000037.4(ANK1):c.2370G>T (p.Thr790=) rs540304535 0.00008
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.1521G>A (p.Leu507=) rs374623408 0.00005
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00005
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) rs144904116 0.00004
NM_000037.4(ANK1):c.2760C>T (p.Asp920=) rs201312056 0.00004
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459 0.00002
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) rs116148295 0.00002
NM_000037.4(ANK1):c.711+13C>T rs763737257 0.00002
NM_000037.4(ANK1):c.1230G>C (p.Val410=) rs184006495 0.00001
NM_000037.4(ANK1):c.1350G>A (p.Thr450=) rs769803878 0.00001
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227

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