ClinVar Miner

List of variants in gene TGFBR1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*4300C>T rs41283642 0.02037
NM_004612.4(TGFBR1):c.*4499G>A rs79641064 0.01970
NM_004612.4(TGFBR1):c.1387-261C>T rs10988731 0.01492
NM_004612.4(TGFBR1):c.*2703G>A rs76392135 0.01278
NM_004612.4(TGFBR1):c.1387-325A>G rs75709355 0.00847
NM_004612.4(TGFBR1):c.*2645A>C rs17724567 0.00660
NM_004612.4(TGFBR1):c.1131-232C>G rs11466470 0.00586
NM_004612.4(TGFBR1):c.344-142G>A rs72739278 0.00455
NM_004612.4(TGFBR1):c.574+251C>T rs11568767 0.00374
NM_004612.4(TGFBR1):c.344-275A>G rs116466865 0.00370
NM_004612.4(TGFBR1):c.1256-253A>G rs11466474 0.00355
NM_004612.4(TGFBR1):c.574+50C>T rs11466460 0.00355
NM_004612.4(TGFBR1):c.1131-202C>T rs79021290 0.00347
NM_004612.4(TGFBR1):c.344-71G>A rs72739279 0.00340
NM_004612.4(TGFBR1):c.1130+314T>G rs11568796 0.00320
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) rs147388628 0.00024
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.1130+52C>T rs56251429 0.00021
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 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.120C>T (p.Leu40=) rs201267786 0.00011
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=) rs369226180 0.00004
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110 0.00003
NM_004612.4(TGFBR1):c.1387-16T>A rs199541766 0.00002
NM_004612.4(TGFBR1):c.1485C>T (p.Leu495=) rs1554702762 0.00001
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) rs200091200 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.1059A>G (p.Gly353=) rs1554701912
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.1387-15del rs752215820
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.204C>T (p.Asn68=) rs1057521532
NM_004612.4(TGFBR1):c.52GCG[10] (p.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.52GCG[7] (p.Ala25_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) rs538382054
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.741G>A (p.Glu247=) rs764165477
NM_004612.4(TGFBR1):c.97+27_97+41dup rs1554695435
NM_004612.4(TGFBR1):c.974-22T>A rs11568794

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