ClinVar Miner

Variants in gene GRIN1 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
941 27 0 18 14 1 10 39

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 protective other
pathogenic 0 7 1 0 0 0 0
likely pathogenic 7 0 9 0 0 0 0
uncertain significance 2 10 0 13 3 1 1
likely benign 0 0 12 0 11 0 0
benign 0 0 2 11 0 0 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349 0.01638
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612 0.01637
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_007327.4(GRIN1):c.525G>A (p.Ala175=) rs77812749 0.00163
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) rs141249927 0.00153
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515 0.00059
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_007327.4(GRIN1):c.2444-14G>A rs191352124 0.00024
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) rs145176345 0.00023
NM_007327.4(GRIN1):c.1012G>A (p.Val338Met) rs140672142 0.00015
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His) rs587780348 0.00014
NM_007327.4(GRIN1):c.610G>A (p.Val204Met) rs140422926 0.00009
NM_007327.4(GRIN1):c.705C>T (p.Ala235=) rs201343933 0.00006
NM_007327.4(GRIN1):c.1076G>A (p.Arg359His) rs141704101 0.00004
NM_007327.4(GRIN1):c.2499C>T (p.Ile833=) rs146086141 0.00004
NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser) rs148008303 0.00003
NM_007327.4(GRIN1):c.2589+6G>T rs200395927 0.00003
NM_007327.4(GRIN1):c.794-11T>A rs1347697507 0.00002
NM_007327.4(GRIN1):c.264C>T (p.Tyr88=) rs199679287 0.00001
NM_007327.4(GRIN1):c.957G>A (p.Pro319=) rs766888803 0.00001
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val) rs1554770221
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala) rs1393555703
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val) rs2131299136
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) rs1064795712
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007327.4(GRIN1):c.421G>A (p.Val141Met) rs1293947350
NM_007327.4(GRIN1):c.448G>A (p.Val150Met) rs1187375556
Single allele

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