ClinVar Miner

Variants in gene combination ACTC1, GJD2-DT 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
621 100 0 30 10 0 7 41

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 3 2 0 0
likely pathogenic 3 0 7 0 0
uncertain significance 2 7 0 8 7
likely benign 0 0 8 0 27
benign 0 0 7 27 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_005159.5(ACTC1):c.129+32C>A rs76013827 0.01002
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=) rs764683976 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.4(ACTC1):c.*214G>A rs540240407
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[19] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404

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