ClinVar Miner

List of variants in gene TGFBR1 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_004612.4(TGFBR1):c.805+39A>G rs11568778 0.02404
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
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.810T>C (p.Asn270=) rs147388628 0.00024
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.1497A>G (p.Glu499=) rs200055681 0.00013
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) rs202010361 0.00005
NM_004612.4(TGFBR1):c.318C>T (p.Cys106=) rs149417020 0.00004
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=) rs761512764 0.00001
NM_004612.4(TGFBR1):c.1256-3C>T rs755431191 0.00001
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=) rs201497553 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.1105C>G (p.Pro369Ala)
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp) rs1171355842
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.644G>A (p.Arg215Gln) rs2118711787
NM_004612.4(TGFBR1):c.660G>T (p.Trp220Cys)
NM_004612.4(TGFBR1):c.742A>T (p.Ile248Phe) rs2118719566
NM_004612.4(TGFBR1):c.945T>C (p.His315=)
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.