ClinVar Miner

Variants in gene LARGE1 with conflicting interpretations

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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
897 40 0 22 24 0 1 45

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 21 4
likely benign 0 21 0 22
benign 0 4 22 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.2073+36C>T rs41302579 0.00883
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239

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