ClinVar Miner

Variants with conflicting interpretations studied for Spherocytosis, Dominant

Coded as:
Minimum review status of the submission for Spherocytosis, Dominant: Y axis collection method of the submission for Spherocytosis, Dominant:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
98 149 1 67 5 0 1 72

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, Dominant pathogenic uncertain significance likely benign benign
uncertain significance 0 1 3 1
likely benign 1 1 0 67

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
not specified 0 4 0 63 4 0 0 67
not provided 0 5 1 12 1 0 0 14
Spherocytosis type 1 0 0 0 5 0 0 0 5
Band 3 memphis 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP
NM_000037.3(ANK1):c.2403G>A (p.Lys801=) rs147130318
NM_000342.3(SLC4A1):c.113A>C (p.Asp38Ala) rs5035
NM_000342.3(SLC4A1):c.1249C>T (p.Leu417=) rs5015
NM_000342.3(SLC4A1):c.1323G>A (p.Leu441=) rs5017
NM_000342.3(SLC4A1):c.16-14G>A rs145502796
NM_000342.3(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.3(SLC4A1):c.1770G>A (p.Lys590=) rs35807245
NM_000342.3(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.3(SLC4A1):c.1953C>T (p.His651=) rs5021
NM_000342.3(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.3(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.3(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
NM_000342.3(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733
NM_000342.3(SLC4A1):c.924G>A (p.Leu308=) rs5013
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498
NM_001355436.2(SPTB):c.300+7T>C rs229581
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806
NM_001355436.2(SPTB):c.4003-12T>C rs78707026
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.4564-4G>A rs4902312
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252
NM_001355436.2(SPTB):c.5799-7C>T rs7142689
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411
NM_001355436.2(SPTB):c.6023-8C>T rs56181906
NM_001355436.2(SPTB):c.6269+13C>T rs11622977
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119
NM_001355436.2(SPTB):c.876+5A>G rs230703
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172
NM_020476.2(ANK1):c.1320G>A (p.Pro440=) rs28533718
NM_020476.2(ANK1):c.1590C>T (p.Ala530=) rs61758865
NM_020476.2(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_020476.2(ANK1):c.183G>C (p.Val61=) rs61753680
NM_020476.2(ANK1):c.1856G>A (p.Arg619His) rs2304877
NM_020476.2(ANK1):c.2073C>T (p.Gly691=) rs1137177
NM_020476.2(ANK1):c.2349C>T (p.Thr783=) rs2304880
NM_020476.2(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_020476.2(ANK1):c.2960+13G>T rs200746947
NM_020476.2(ANK1):c.315C>T (p.Asn105=) rs2304871
NM_020476.2(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384
NM_020476.2(ANK1):c.3486C>T (p.Ser1162=) rs35964634
NM_020476.2(ANK1):c.3973A>G (p.Met1325Val) rs10093583
NM_020476.2(ANK1):c.4008G>A (p.Pro1336=) rs147536061
NM_020476.2(ANK1):c.4101C>T (p.Ala1367=) rs7816734
NM_020476.2(ANK1):c.4385C>T (p.Ala1462Val) rs34664882
NM_020476.2(ANK1):c.4506C>T (p.Arg1502=) rs34265667
NM_020476.2(ANK1):c.450A>G (p.Val150=) rs6982971
NM_020476.2(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_020476.2(ANK1):c.5265G>A (p.Val1755=) rs750625
NM_020476.2(ANK1):c.5479-3T>C rs515071
NM_020476.2(ANK1):c.597G>A (p.Pro199=) rs2304873
NM_020476.2(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_020476.2(ANK1):c.909+7A>G rs17661203

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