ClinVar Miner

Variants in gene CHRND with conflicting interpretations

See also:
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
475 21 0 9 24 0 1 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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 19 6
likely benign 0 19 0 9
benign 0 6 9 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn) rs202209156 0.00051
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000751.3(CHRND):c.1048-7G>T rs369026633 0.00010
NM_000751.3(CHRND):c.1125G>A (p.Val375=) rs143246852 0.00010
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.821-52_821-18del rs530117757
NM_000751.3(CHRND):c.932+5G>A rs797045474

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