ClinVar Miner

Variants in gene DEAF1 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
607 57 0 21 9 0 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
pathogenic 0 12 7 0 0
likely pathogenic 12 0 4 0 0
uncertain significance 7 4 0 9 0
likely benign 0 0 9 0 9
benign 0 0 0 9 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_021008.4(DEAF1):c.825C>T (p.His275=) rs144498322 0.00310
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) rs71469813 0.00284
NM_021008.4(DEAF1):c.162G>C (p.Ser54=) rs141389829 0.00133
NM_021008.4(DEAF1):c.231C>T (p.Asp77=) rs371538775 0.00130
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) rs767318857 0.00124
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_021008.4(DEAF1):c.517+8G>A rs369913079 0.00048
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) rs111947578 0.00046
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) rs373861624 0.00036
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=) rs202179285 0.00014
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg) rs372135504 0.00005
NM_021008.4(DEAF1):c.1114G>A (p.Ala372Thr) rs371467345 0.00001
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter) rs1860672898 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 0.00001
NM_021008.4(DEAF1):c.1090_1091del (p.Pro365fs) rs756419434
NM_021008.4(DEAF1):c.294G>A (p.Val98=) rs1038817783
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) rs1590028691
NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del) rs758496577
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del) rs768085739
NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del) rs769664625
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro) rs1590017658
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro) rs1860668289
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) rs1057524157
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) rs752994574
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021008.4(DEAF1):c.781C>T (p.Arg261Ter) rs778326610
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_021008.4(DEAF1):c.837C>G (p.Cys279Trp)
NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) rs1390761338
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) rs1554943158
NM_021008.4(DEAF1):c.926del (p.Leu309fs) rs1417226023

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