ClinVar Miner

Variants in gene GARS1 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
693 38 0 13 14 0 6 31

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 1 5 0 0
likely pathogenic 1 0 1 1 0
uncertain significance 5 1 0 14 1
likely benign 0 1 14 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.1700-45T>C rs118002895 0.02313
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_002047.2(GARS1):c.-177T>C rs78980639 0.00437
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925 0.00004
NM_002047.4(GARS1):c.787G>A (p.Val263Ile) rs77518956 0.00004
NM_002047.4(GARS1):c.69G>A (p.Arg23=) rs762624758 0.00003
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del) rs150213018
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648

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