ClinVar Miner

Variants in gene TGFBR1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) rs758280185 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_004612.4(TGFBR1):c.343+3A>G rs374717754 0.00002
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779 0.00002
NM_004612.4(TGFBR1):c.1256-3C>T rs755431191 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 0.00001
NM_004612.4(TGFBR1):c.97+14C>T rs1198082830 0.00001
NM_004612.4(TGFBR1):c.1131-8T>G rs1827799094
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1387-4G>C
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.574+7_574+8del
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221

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