ClinVar Miner

Variants in gene CLCN1 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
185 44 13 31 11 0 11 53

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 13 16 9 1 0
likely pathogenic 16 0 7 1 0
uncertain significance 9 7 0 11 1
likely benign 1 1 11 0 15
benign 0 0 1 15 0

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_000083.2(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.2(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.2(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.2(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.2(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.2(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.2(CLCN1):c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) rs768119034
NM_000083.2(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.2(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.2(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.2(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.2(CLCN1):c.1797-9C>T rs41276057
NM_000083.2(CLCN1):c.1815T>C (p.Val605=) rs141945240
NM_000083.2(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.2(CLCN1):c.2136T>C (p.Asp712=) rs73726622
NM_000083.2(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.2(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.2(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.2(CLCN1):c.2284+5C>T rs74824159
NM_000083.2(CLCN1):c.2364+10G>A rs201855153
NM_000083.2(CLCN1):c.2403+5G>A rs1474520642
NM_000083.2(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.2(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.2(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.2(CLCN1):c.2831dupC (p.Gly945Argfs) rs755176513
NM_000083.2(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.2(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.2(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.2(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.2(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.2(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.2(CLCN1):c.461A>G (p.Gln154Arg) rs111482384
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.2(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.2(CLCN1):c.663G>A (p.Ala221=) rs147317366
NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.2(CLCN1):c.774+1G>A rs776073429
NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.2(CLCN1):c.804G>A (p.Thr268=) rs141521078
NM_000083.2(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.2(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.2(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.2(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702

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