ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) rs113786548 0.00005
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) rs780295872 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.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val) rs992252059 0.00002
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) rs1241201708 0.00001
NM_004612.4(TGFBR1):c.1487G>A (p.Ser496Asn) rs764733540 0.00001
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) rs775267361 0.00001
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met) rs745324433 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) rs863223834 0.00001
NM_004612.4(TGFBR1):c.1013A>C (p.Asn338Thr) rs863223821
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1087G>A (p.Asp363Asn) rs2118806314
NM_004612.4(TGFBR1):c.1093A>G (p.Ile365Val) rs863223823
NM_004612.4(TGFBR1):c.1110C>G (p.Asn370Lys) rs368402450
NM_004612.4(TGFBR1):c.1121G>A (p.Gly374Glu) rs1554701930
NM_004612.4(TGFBR1):c.1126A>G (p.Lys376Glu) rs2118807458
NM_004612.4(TGFBR1):c.1129A>G (p.Arg377Gly) rs2118807523
NM_004612.4(TGFBR1):c.1136T>C (p.Met379Thr) rs886039004
NM_004612.4(TGFBR1):c.1142dup (p.Pro381_Glu382insTer)
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) rs863223824
NM_004612.4(TGFBR1):c.1229A>G (p.Glu410Gly) rs1827803661
NM_004612.4(TGFBR1):c.1237C>T (p.Arg413Ter) rs200595614
NM_004612.4(TGFBR1):c.1255G>A (p.Gly419Arg) rs863223827
NM_004612.4(TGFBR1):c.1306C>G (p.Pro436Ala) rs863223835
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
NM_004612.4(TGFBR1):c.1338_1339del (p.Cys446_Glu447delinsTer) rs1554702481
NM_004612.4(TGFBR1):c.1410T>G (p.Ile470Met)
NM_004612.4(TGFBR1):c.1427A>G (p.Tyr476Cys)
NM_004612.4(TGFBR1):c.1439_1440insT (p.Ala481fs) rs1827901042
NM_004612.4(TGFBR1):c.166G>A (p.Val56Ile) rs2118564689
NM_004612.4(TGFBR1):c.341C>G (p.Thr114Ser) rs1827133059
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu) rs878854713
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu) rs1057524105
NM_004612.4(TGFBR1):c.428T>A (p.Leu143Ter) rs863223831
NM_004612.4(TGFBR1):c.464A>G (p.His155Arg)
NM_004612.4(TGFBR1):c.50T>C (p.Leu17Pro)
NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal)
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.607A>G (p.Arg203Gly) rs2118709322
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.620T>C (p.Leu207Ser) rs2118710215
NM_004612.4(TGFBR1):c.630C>G (p.Ser210Arg) rs2118710827
NM_004612.4(TGFBR1):c.648T>G (p.Phe216Leu) rs863223809
NM_004612.4(TGFBR1):c.655G>A (p.Val219Ile)
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.691G>C (p.Val231Leu)
NM_004612.4(TGFBR1):c.692T>G (p.Val231Gly)
NM_004612.4(TGFBR1):c.706T>G (p.Ser236Ala) rs1554700634
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly) rs863223813
NM_004612.4(TGFBR1):c.716A>G (p.Glu239Gly) rs2118717180
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys) rs2118718530
NM_004612.4(TGFBR1):c.766dup (p.His256fs) rs1554700665
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)
NM_004612.4(TGFBR1):c.848A>C (p.His283Pro) rs1064796037
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe) rs863223832
NM_004612.4(TGFBR1):c.873C>G (p.Tyr291Ter) rs2118778441
NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) rs1554701447
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.949C>T (p.His317Tyr)
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) rs2118780957
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe) rs760419678
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833
NM_004612.4(TGFBR1):c.973+1G>A rs863223818
NM_004612.4(TGFBR1):c.973G>C (p.Gly325Arg)
NM_004612.4(TGFBR1):c.974-1G>A rs2118803591
NM_004612.4(TGFBR1):c.976A>G (p.Lys326Glu) rs2118803615
NM_004612.4(TGFBR1):c.978G>C (p.Lys326Asn) rs863223820

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