ClinVar Miner

Variants in gene SNRNP200 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
1035 35 0 23 13 0 4 38

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 4 2 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 2 2 0 10 5
likely benign 0 0 10 0 19
benign 0 0 5 19 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) rs139731897 0.00289
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) rs151063400 0.00165
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_014014.5(SNRNP200):c.273G>A (p.Ser91=) rs115907254 0.00073
NM_014014.5(SNRNP200):c.4165-6C>T rs372471318 0.00054
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=) rs375650263 0.00051
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly) rs766856664 0.00028
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) rs375734152 0.00026
NM_014014.5(SNRNP200):c.46-7T>C rs373701482 0.00022
NM_014014.5(SNRNP200):c.3924C>T (p.Pro1308=) rs765746512 0.00020
NM_014014.5(SNRNP200):c.1203+9C>T rs753985092 0.00016
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=) rs139137932 0.00016
NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=) rs201513678 0.00015
NM_014014.5(SNRNP200):c.90G>C (p.Arg30=) rs374762800 0.00009
NM_014014.5(SNRNP200):c.983-7T>C rs778082108 0.00006
NM_014014.5(SNRNP200):c.4230C>T (p.Gly1410=) rs747476940 0.00005
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) rs199736893 0.00005
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile) rs148170370 0.00004
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=) rs191438128 0.00004
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) rs377641548 0.00004
NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=) rs754294342 0.00002
NM_014014.5(SNRNP200):c.6093-7C>A rs201143866 0.00002
NM_014014.5(SNRNP200):c.2457G>A (p.Val819=) rs778673233 0.00001
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=) rs376352502 0.00001
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) rs368225080 0.00001
NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser) rs780795928 0.00001
NM_014014.5(SNRNP200):c.1627C>T (p.Pro543Ser) rs1057519143
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) rs2063893838
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014014.5(SNRNP200):c.574+10C>T rs368132966

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