ClinVar Miner

Variants in gene TGM6 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
320 49 0 34 13 0 3 50

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 0 2 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 2 1 0 10 3
likely benign 0 0 10 0 34
benign 0 0 3 34 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00438
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00410
NM_198994.3(TGM6):c.146A>T (p.Asp49Val) rs12106280 0.00238
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925 0.00175
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00135
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln) rs148376598 0.00123
NM_198994.3(TGM6):c.1387G>A (p.Gly463Ser) rs138184667 0.00090
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00080
NM_198994.3(TGM6):c.751T>C (p.Trp251Arg) rs375649994 0.00073
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln) rs201645096 0.00069
NM_198994.3(TGM6):c.1301G>A (p.Arg434His) rs150243412 0.00068
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00056
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_198994.3(TGM6):c.1556A>C (p.Asn519Thr) rs374219808 0.00026
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr) rs150088385 0.00021
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly) rs141178275 0.00018
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_198994.3(TGM6):c.1668G>T (p.Gly556=) rs781154109 0.00007
NM_198994.3(TGM6):c.1303G>A (p.Val435Met) rs769042038 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_198994.3(TGM6):c.1968C>T (p.Asp656=) rs141258102 0.00006
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.1302C>T (p.Arg434=) rs749578418 0.00003
NM_198994.3(TGM6):c.573C>G (p.Leu191=) rs1347908694 0.00001
NM_198994.3(TGM6):c.618C>T (p.Thr206=) rs111415879 0.00001
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.1678+9A>T
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.245G>T (p.Gly82Val) rs144094215

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