ClinVar Miner

List of variants in gene TGFBR1 reported by GeneDx

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Gene type:
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Total variants: 106
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HGVS dbSNP
NC_000009.12:g.99105329_99105343dup
NC_000009.12:g.99132930_99132935del
NM_004612.3(TGFBR1):c.1387-15del rs752215820
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
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.1013A>C (p.Asn338Thr) rs863223821
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.4(TGFBR1):c.1052A>C (p.Asp351Ala) rs863223822
NM_004612.4(TGFBR1):c.1059A>G (p.Gly353=) rs1554701912
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.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1130+254G>A
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) rs863223824
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.1255G>A (p.Gly419Arg) rs863223827
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110
NM_004612.4(TGFBR1):c.1256-253A>G
NM_004612.4(TGFBR1):c.1256-279A>G
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.1306C>G (p.Pro436Ala) rs863223835
NM_004612.4(TGFBR1):c.1307C>T (p.Pro436Leu) rs1131691342
NM_004612.4(TGFBR1):c.1336_1337TG[1] (p.Cys446_Glu447delinsTer) rs1554702481
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.1387-16T>A rs199541766
NM_004612.4(TGFBR1):c.1387-261C>T
NM_004612.4(TGFBR1):c.1387-325A>G
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg) rs759805984
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) rs767589799
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875
NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu) rs113605875
NM_004612.4(TGFBR1):c.1485C>T (p.Leu495=) rs1554702762
NM_004612.4(TGFBR1):c.1487G>A (p.Ser496Asn) rs764733540
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.4(TGFBR1):c.204C>T (p.Asn68=) rs1057521532
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.20C>T (p.Ala7Val) rs863223802
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.32G>A (p.Arg11Gln) rs886038980
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.35T>C (p.Leu12Pro) rs1057524279
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.415A>G (p.Ile139Val) rs148176750
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.434T>G (p.Val145Gly) rs775267361
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.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.574+50C>T
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.648T>G (p.Phe216Leu) rs863223809
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val) rs772339721
NM_004612.4(TGFBR1):c.680_682AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn) rs863223811
NM_004612.4(TGFBR1):c.706T>G (p.Ser236Ala) rs1554700634
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.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.724T>C (p.Trp242Arg) rs863223814
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.741G>A (p.Glu247=) rs764165477
NM_004612.4(TGFBR1):c.758T>C (p.Met253Thr) rs863223815
NM_004612.4(TGFBR1):c.766dup (p.His256fs) rs1554700665
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) rs863223819
NM_004612.4(TGFBR1):c.820A>G (p.Thr274Ala) rs863223816
NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg) rs863223817
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803
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.873_876del (p.Asp290_Tyr291insTer) rs1554701447
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) rs201323409
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833
NM_004612.4(TGFBR1):c.973+142T>C
NM_004612.4(TGFBR1):c.973+1G>A rs863223818
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) rs863223834
NM_004612.4(TGFBR1):c.978G>C (p.Lys326Asn) rs863223820

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