ClinVar Miner

Variants in gene SRCAP 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
1242 100 0 33 37 0 2 71

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 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 0 2 0 36 2
likely benign 0 0 36 0 30
benign 0 0 2 30 0

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_006662.3(SRCAP):c.6495-8C>A rs75991082 0.00994
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619 0.00170
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822 0.00123
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240 0.00064
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=) rs370111987 0.00063
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=) rs143133981 0.00059
NM_006662.3(SRCAP):c.8363C>T (p.Pro2788Leu) rs141858791 0.00056
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508 0.00044
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) rs565950672 0.00039
NM_006662.3(SRCAP):c.8463C>T (p.Pro2821=) rs377100819 0.00030
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_006662.3(SRCAP):c.5206C>G (p.Pro1736Ala) rs199521388 0.00017
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr) rs368587038 0.00016
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170 0.00009
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) rs201837401 0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=) rs150413453 0.00009
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_006662.3(SRCAP):c.6140C>T (p.Thr2047Met) rs144253022 0.00008
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=) rs556745550 0.00007
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 0.00005
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545 0.00003
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=) rs78465857 0.00003
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_006662.3(SRCAP):c.1493A>T (p.Asp498Val) rs199716597 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser) rs753700157 0.00001
NM_006662.3(SRCAP):c.1135-2A>G
NM_006662.3(SRCAP):c.1493-8C>A rs184337406
NM_006662.3(SRCAP):c.1992A>G (p.Lys664=)
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006662.3(SRCAP):c.5870G>A (p.Arg1957Gln)
NM_006662.3(SRCAP):c.6297+17C>T
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=) rs886044120
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7133C>T (p.Thr2378Ile)
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7544C>T (p.Pro2515Leu)
NM_006662.3(SRCAP):c.7765G>A (p.Ala2589Thr)
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp) rs1131691316
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_006662.3(SRCAP):c.8975CTGTCACCA[1] (p.2992TVT[1]) rs559460451

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