ClinVar Miner

Variants in gene CLCN4 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
489 58 1 20 6 0 8 33

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 0 2 0 0
likely pathogenic 0 0 6 1 0
uncertain significance 2 6 1 3 3
likely benign 0 1 3 0 20
benign 0 0 3 20 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.244+4C>G rs192492405 0.00750
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_001830.4(CLCN4):c.2031G>A (p.Thr677=) rs149158671 0.00092
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_001830.4(CLCN4):c.1548C>T (p.Tyr516=) rs111332758 0.00077
NM_001830.4(CLCN4):c.1575C>T (p.Leu525=) rs112652769 0.00063
NM_001830.4(CLCN4):c.747G>A (p.Glu249=) rs143534990 0.00037
NM_001830.4(CLCN4):c.1863C>T (p.Asp621=) rs36049237 0.00025
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) rs749839151 0.00019
NM_001830.4(CLCN4):c.145-4C>A rs202245864 0.00014
NM_001830.4(CLCN4):c.975G>A (p.Thr325=) rs73483205 0.00012
NM_001830.4(CLCN4):c.1871C>T (p.Thr624Met) rs751105638 0.00008
NM_001830.4(CLCN4):c.1819C>T (p.Pro607Ser) rs193252755 0.00004
NM_001830.4(CLCN4):c.822C>T (p.Gly274=) rs748967139 0.00004
NM_001830.4(CLCN4):c.844-8C>G rs753237957 0.00004
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met) rs376745468 0.00003
NM_001830.4(CLCN4):c.1905C>T (p.Pro635=) rs749273690 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) rs398123627 0.00002
NM_001830.4(CLCN4):c.273C>T (p.Ala91=) rs371465743 0.00002
NM_001830.4(CLCN4):c.1576+5G>A rs183625504 0.00001
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_001830.4(CLCN4):c.547A>T (p.Ile183Leu) rs769632007 0.00001
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001830.4(CLCN4):c.144+6T>A rs1057523693
NM_001830.4(CLCN4):c.1695A>G (p.Ala565=) rs776788910
NM_001830.4(CLCN4):c.1980C>T (p.Asn660=) rs139482850
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn) rs879255591
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001830.4(CLCN4):c.948C>T (p.Leu316=) rs746958474

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