ClinVar Miner

Variants in gene ZSWIM6 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
715 38 0 23 13 0 0 35

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 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 10 4
likely benign 0 0 10 0 21
benign 0 0 4 21 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020928.2(ZSWIM6):c.1334-15C>T rs143225117 0.01725
NM_020928.2(ZSWIM6):c.1729C>T (p.Arg577Cys) rs116036211 0.00361
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met) rs140760439 0.00337
NM_020928.2(ZSWIM6):c.243G>T (p.Ala81=) rs553592342 0.00333
NM_020928.2(ZSWIM6):c.3119G>A (p.Arg1040His) rs192222164 0.00054
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser) rs201912422 0.00048
NM_020928.2(ZSWIM6):c.636G>A (p.Ala212=) rs565326403 0.00048
NM_020928.2(ZSWIM6):c.582C>T (p.Ala194=) rs746876878 0.00046
NM_020928.2(ZSWIM6):c.2142A>G (p.Lys714=) rs769830528 0.00044
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly) rs1456197449 0.00033
NM_020928.2(ZSWIM6):c.2013A>G (p.Glu671=) rs369326083 0.00029
NM_020928.2(ZSWIM6):c.3039G>A (p.Ala1013=) rs374621238 0.00021
NM_020928.2(ZSWIM6):c.1893T>C (p.His631=) rs757310729 0.00016
NM_020928.2(ZSWIM6):c.2890G>A (p.Val964Ile) rs774718702 0.00004
NM_020928.2(ZSWIM6):c.3035C>T (p.Thr1012Met) rs138406248 0.00004
NM_020928.2(ZSWIM6):c.2108G>A (p.Arg703His) rs995265434 0.00002
NM_020928.2(ZSWIM6):c.2372G>A (p.Arg791Lys) rs896435221 0.00001
NM_020928.2(ZSWIM6):c.151GCG[4] (p.Ala55_Ala56del) rs779283808
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.222C>T (p.Pro74=) rs757648079
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020928.2(ZSWIM6):c.2788G>A (p.Val930Ile) rs748023376
NM_020928.2(ZSWIM6):c.29C>A (p.Pro10His) rs943024318
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020928.2(ZSWIM6):c.442GGC[4] (p.Gly152_Gly154del)
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_020928.2(ZSWIM6):c.442GGC[8] (p.Gly154dup) rs864309616
NM_020928.2(ZSWIM6):c.477GGCCGCAACCTCGGC[1] (p.162TSAAA[1]) rs541338051
NM_020928.2(ZSWIM6):c.522CGC[11] (p.Ala184_Gly185insAla) rs1262946696
NM_020928.2(ZSWIM6):c.522CGC[8] (p.Ala183_Ala184del)
NM_020928.2(ZSWIM6):c.57CGG[4] (p.Gly25_Gly26del) rs565100893
NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del) rs565100893
NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup) rs528020839
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup) rs528020839

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