ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_004612.4(TGFBR1):c.-13T>C rs886063220
NM_004612.4(TGFBR1):c.1013A>C (p.Asn338Thr) rs863223821
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.1117G>A (p.Val373Met) rs1554701926
NM_004612.4(TGFBR1):c.1130+1G>A
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) rs863223824
NM_004612.4(TGFBR1):c.1255G>A (p.Gly419Arg) rs863223827
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016
NM_004612.4(TGFBR1):c.1306C>G (p.Pro436Ala) rs863223835
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.1433A>G (p.Asn478Ser) rs141259922
NM_004612.4(TGFBR1):c.1487G>A (p.Ser496Asn) rs764733540
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497
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.32G>A (p.Arg11Gln) rs886038980
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=)
NM_004612.4(TGFBR1):c.345A>G (p.Val115=) rs766347880
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.479A>G (p.Asn160Ser) rs767785290
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys) rs1057519144
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52_54GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[4] (p.Ala22_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val) rs1554695407
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.706T>G (p.Ser236Ala) rs1554700634
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys)
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.766dup (p.His256fs) rs1554700665
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
NM_004612.4(TGFBR1):c.848A>C (p.His283Pro) rs1064796037
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)
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.897G>A (p.Val299=) rs369881419
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833
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
NM_004612.4(TGFBR1):c.98-4C>A rs1554698879

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