ClinVar Miner

List of variants in gene TGFBR1 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
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.192A>G (p.Lys64=) rs112051451 0.00081
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.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.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681 0.00013
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_004612.4(TGFBR1):c.87G>C (p.Pro29=) rs1246631676 0.00003
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459 0.00003
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) rs200912890 0.00003
NM_004612.4(TGFBR1):c.42C>T (p.Leu14=) rs1473259643 0.00002
NM_004612.4(TGFBR1):c.495A>G (p.Ser165=) rs753147276 0.00002
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.282T>C (p.Ser94=) rs886038856 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 0.00001
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=) rs200078591 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) rs779055286 0.00001
NM_004612.4(TGFBR1):c.1054T>C (p.Leu352=)
NM_004612.4(TGFBR1):c.1278G>A (p.Leu426=)
NM_004612.4(TGFBR1):c.1389C>G (p.Ala463=)
NM_004612.4(TGFBR1):c.1443T>C (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1452A>T (p.Thr484=)
NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=)
NM_004612.4(TGFBR1):c.355C>T (p.Pro119Ser)
NM_004612.4(TGFBR1):c.45C>T (p.Leu15=)
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.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.66G>A (p.Ala22=)
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=) rs202156059
NM_004612.4(TGFBR1):c.705C>G (p.Ser235=) rs1325342802
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.760T>C (p.Leu254=)
NM_004612.4(TGFBR1):c.768T>C (p.His256=)
NM_004612.4(TGFBR1):c.993T>C (p.His331=)

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