ClinVar Miner

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

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Total variants: 61
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HGVS dbSNP
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met) rs1554701926
NM_004612.4(TGFBR1):c.1121G>A (p.Gly374Glu) rs1554701930
NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val) rs1554702207
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016
NM_004612.4(TGFBR1):c.1301C>T (p.Ser434Phe) rs886039078
NM_004612.4(TGFBR1):c.1322T>G (p.Met441Arg) rs1554702474
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg) rs1564176059
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.4(TGFBR1):c.1415G>A (p.Arg472Lys) rs1554702716
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922
NM_004612.4(TGFBR1):c.1438G>C (p.Ala480Pro)
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)
NM_004612.4(TGFBR1):c.1447C>T (p.Leu483Phe) rs1554702734
NM_004612.4(TGFBR1):c.1459C>G (p.Arg487Gly)
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu) rs1554702748
NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg)
NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn)
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.220G>A (p.Glu74Lys) rs998268148
NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp) rs769320006
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu) rs878854713
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)
NM_004612.4(TGFBR1):c.466C>T (p.His156Tyr)
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) rs1060502044
NM_004612.4(TGFBR1):c.52_54GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.575-5T>G
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073
NM_004612.4(TGFBR1):c.623A>C (p.Gln208Pro)
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) rs1060502046
NM_004612.4(TGFBR1):c.704C>T (p.Ser235Phe) rs1554700632
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val)
NM_004612.4(TGFBR1):c.725G>T (p.Trp242Leu) rs1564161816
NM_004612.4(TGFBR1):c.731G>C (p.Arg244Pro) rs1329974247
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.752_806-1129del
NM_004612.4(TGFBR1):c.767A>G (p.His256Arg) rs1554700666
NM_004612.4(TGFBR1):c.796G>A (p.Asp266Asn) rs1060502043
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.805G>A (p.Asp269Asn) rs1564162124
NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro) rs863223816
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158
NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val) rs1381354900
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe) rs1564168346
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) rs1060502045
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)
NM_004612.4(TGFBR1):c.952A>T (p.Met318Leu)
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) rs863223834

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