ClinVar Miner

Variants with conflicting interpretations studied for Autosomal recessive congenital ichthyosis 1

Coded as:
Minimum review status of the submission for Autosomal recessive congenital ichthyosis 1: Collection method of the submission for Autosomal recessive congenital ichthyosis 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
219 47 0 48 15 0 13 67

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.

All conditions
Autosomal recessive congenital ichthyosis 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 40 8 1 2
likely pathogenic 40 0 10 0 0
uncertain significance 8 10 0 11 6
likely benign 1 0 11 0 8
benign 2 0 6 8 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Autosomal recessive congenital ichthyosis 1 219 47 0 48 15 0 13 67

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_000359.3(TGM1):c.1298+9G>A rs201015655 0.00140
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1645+1G>T rs774242987 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln) rs781006633 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.984+1G>A rs749160734

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