ClinVar Miner

Variants in gene TGFBR2 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
942 257 0 44 36 0 18 84

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 15 4 1 0
likely pathogenic 15 0 16 0 0
uncertain significance 4 16 0 36 9
likely benign 1 0 36 0 29
benign 0 0 9 29 0

All variants with conflicting interpretations #

Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*1833A>C rs1803446 0.02445
NM_003242.6(TGFBR2):c.264-35T>G rs11466495 0.00944
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003242.6(TGFBR2):c.95-7T>C rs764533083 0.00005
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.94+16273G>A rs781529108 0.00003
NM_003242.6(TGFBR2):c.94+16278G>C rs557449314 0.00003
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser) rs773431795 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His) rs751948498 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003242.6(TGFBR2):c.1039C>T (p.Leu347=)
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1100C>T (p.Pro367Leu) rs1226482581
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1511G>A (p.Trp504Ter)
NM_003242.6(TGFBR2):c.1524+3A>G rs1486137817
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu) rs1060501985
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.455-2del rs863223855
NM_003242.6(TGFBR2):c.455-5A>G rs747104789
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val) rs1371905176
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.869A>G (p.Glu290Gly) rs1575157782
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174

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