ClinVar Miner

Variants in gene GABRG2 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
600 35 0 18 22 0 8 42

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 4 0 0
likely pathogenic 4 0 5 0 0
uncertain significance 4 5 0 20 3
likely benign 0 0 20 0 14
benign 0 0 3 14 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.1153-7G>A rs372884176 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_198904.4(GABRG2):c.632-1212C>T rs587780948 0.00004
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=) rs371601817 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser) rs587777365
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198904.4(GABRG2):c.631+1209TTGTT[5] rs1247520830
NM_198904.4(GABRG2):c.632-1283C>G rs191391831
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=) rs558779533
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys) rs1390117240

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