ClinVar Miner

List of variants in gene TGFBR1 studied for not specified

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Gene type:
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Total variants: 62
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HGVS dbSNP
NM_004612.4(TGFBR1):c.-2C>T rs200224304
NM_004612.4(TGFBR1):c.-49C>G rs990089169
NM_004612.4(TGFBR1):c.-4G>A rs1007933061
NM_004612.4(TGFBR1):c.-50_-49del rs863223801
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.4(TGFBR1):c.1058_1059insCAATA (p.Leu354fs) rs1060499908
NM_004612.4(TGFBR1):c.1059A>G (p.Gly353=) rs1554701912
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984
NM_004612.4(TGFBR1):c.1255+24G>A rs334354
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=) rs369226180
NM_004612.4(TGFBR1):c.1387-14dup rs863223800
NM_004612.4(TGFBR1):c.1387-15del rs752215820
NM_004612.4(TGFBR1):c.1387-16T>A rs199541766
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922
NM_004612.4(TGFBR1):c.1485C>T (p.Leu495=) rs1554702762
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) rs727503469
NM_004612.4(TGFBR1):c.204C>T (p.Asn68=) rs1057521532
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.23C>T (p.Pro8Leu) rs863223803
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) rs200091200
NM_004612.4(TGFBR1):c.24del (p.Arg9fs) rs1060499907
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779
NM_004612.4(TGFBR1):c.50_58del (p.Leu17_Ala20delinsPro) rs863223804
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52_54GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[5] (p.Ala23_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[7] (p.Ala25_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) rs538382054
NM_004612.4(TGFBR1):c.574+18C>T rs370062838
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) rs397517032
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.640G>T (p.Gly214Cys) rs727503470
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly) rs863223813
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.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.805+39A>G rs11568778
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) rs201323409
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) rs727504383

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