ClinVar Miner

Variants in gene TGM1 with conflicting interpretations

See also:
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:

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
1016 88 0 63 21 0 18 85

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 47 12 1 2
likely pathogenic 47 0 13 0 0
uncertain significance 12 13 0 17 8
likely benign 1 0 17 0 16
benign 2 0 8 16 0

All variants with conflicting interpretations #

Total variants: 85
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 0.00463
NM_000359.3(TGM1):c.1645+5C>A rs187575724 0.00432
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.168G>A (p.Ala56=) rs79251149 0.00420
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_000359.3(TGM1):c.394G>A (p.Asp132Asn) rs2229462 0.00244
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.920G>A (p.Arg307Gln) rs146770534 0.00143
NM_000359.3(TGM1):c.1298+9G>A rs201015655 0.00140
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00099
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00075
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00050
NM_000359.3(TGM1):c.1762G>A (p.Ala588Thr) rs146728175 0.00043
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.923G>A (p.Arg308Gln) rs201328637 0.00011
NM_000359.3(TGM1):c.297A>G (p.Ala99=) rs41295340 0.00010
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 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.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln) rs771051927 0.00003
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln) rs781006633 0.00003
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00003
NM_000359.3(TGM1):c.876+2T>C rs151054393 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.1121A>G (p.Tyr374Cys) rs2040782954 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.802del (p.Val268fs) rs1322979131 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.1025G>T (p.Trp342Leu) rs1490454727
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1159+1G>T rs1220151696
NM_000359.3(TGM1):c.1160-2_1160-1del rs1555306117
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.1338G>A (p.Pro446=) rs776701915
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000359.3(TGM1):c.1571G>T (p.Gly524Val) rs2502494955
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.2060G>A (p.Arg687His) rs2139018911
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro) rs121918718
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu) rs1465243895
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.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.984+1G>A rs749160734

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