ClinVar Miner

Variants in gene ACAN 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
970 85 0 27 17 0 4 47

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 2 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 2 2 0 17 1
likely benign 0 0 17 0 24
benign 0 0 1 24 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_001369268.1(ACAN):c.1051+10G>A rs75524333 0.01573
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu) rs76282091 0.01498
NM_001369268.1(ACAN):c.438G>A (p.Leu146=) rs35600223 0.00751
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_001369268.1(ACAN):c.4120G>A (p.Gly1374Arg) rs201302102 0.00518
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_001369268.1(ACAN):c.7455C>T (p.Cys2485=) rs117879889 0.00457
NM_001369268.1(ACAN):c.2247G>A (p.Val749=) rs137972043 0.00342
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr) rs201149160 0.00162
NM_001369268.1(ACAN):c.7128C>T (p.Arg2376=) rs182888026 0.00152
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr) rs182894280 0.00135
NM_001369268.1(ACAN):c.1242C>T (p.Pro414=) rs375758859 0.00093
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=) rs368979713 0.00093
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile) rs79925540 0.00086
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln) rs35102652 0.00072
NM_001369268.1(ACAN):c.582C>T (p.Asp194=) rs375544241 0.00071
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His) rs200950723 0.00060
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) rs200412974 0.00058
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn) rs200239326 0.00040
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu) rs181923062 0.00012
NM_001369268.1(ACAN):c.894C>T (p.Ser298=) rs576947078 0.00010
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro) rs577419060 0.00009
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=) rs371049725 0.00004
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr) rs751285545 0.00002
NM_001369268.1(ACAN):c.113C>T (p.Pro38Leu) rs548534627 0.00001
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter) rs773948197 0.00001
NM_001369268.1(ACAN):c.11T>C (p.Leu4Ser) rs202166561 0.00001
NM_001369268.1(ACAN):c.6945A>T (p.Ile2315=) rs751061684 0.00001
NM_001369268.1(ACAN):c.7108T>C (p.Tyr2370His) rs1555457492 0.00001
NM_001369268.1(ACAN):c.1460C>T (p.Thr487Ile) rs2141585529
NM_001369268.1(ACAN):c.1575C>T (p.Asp525=) rs367724066
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) rs144501729
NM_001369268.1(ACAN):c.17G>A (p.Trp6Ter)
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
NM_001369268.1(ACAN):c.5539G>T (p.Glu1847Ter) rs2141610121
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001369268.1(ACAN):c.7531C>T (p.Arg2511Trp)

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