ClinVar Miner

Variants in gene TGFBR1 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 Variants with at least 2 submissions 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 kind of conflict
182 130 0 12 11 3 4 28

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 risk factor
pathogenic 0 2 0 0 0 1
likely pathogenic 2 0 4 0 0 0
uncertain significance 0 4 0 11 2 2
likely benign 0 0 11 0 10 0
benign 0 0 2 10 0 0
risk factor 1 0 2 0 0 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_004612.2(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508
NM_004612.2(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.2(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.2(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.2(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.2(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.-2C>T rs200224304
NM_004612.3(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.3(TGFBR1):c.1216T>C (p.Leu406=) rs200062984
NM_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.3(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.3(TGFBR1):c.343+3A>G rs374717754
NM_004612.3(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
NM_004612.3(TGFBR1):c.70_78dupGCGGCGGCG (p.Ala26_Leu27insAlaAlaAla) rs11466445
NM_004612.3(TGFBR1):c.73_78delGCGGCG (p.Ala25_Ala26del) rs11466445
NM_004612.3(TGFBR1):c.76_78delGCG (p.Ala26del) rs11466445
NM_004612.3(TGFBR1):c.76_78dup (p.Ala26_Leu27insAla) rs11466445
NM_004612.3(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.-4G>A rs1007933061
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) rs587776865
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419

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