ClinVar Miner

List of variants in gene TGFBR1 reported as pathogenic

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) rs121918713 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
GRCh37/hg19 9q22.33(chr9:101878960-101949121)x1
NC_000009.11:g.(?_101867488)_(101867604_?)del
NC_000009.11:g.(?_101867488)_(101891402_?)del
NM_004612.4(TGFBR1):c.1005A>T (p.Lys335Asn) rs2118804176
NM_004612.4(TGFBR1):c.102dup (p.Gln35fs) rs2118563240
NM_004612.4(TGFBR1):c.1043G>A (p.Cys348Tyr)
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911
NM_004612.4(TGFBR1):c.1083del (p.Thr362fs)
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.1189A>T (p.Lys397Ter)
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) rs121918711
NM_004612.4(TGFBR1):c.122_123del (p.Cys41fs)
NM_004612.4(TGFBR1):c.1237C>T (p.Arg413Ter) rs200595614
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.4(TGFBR1):c.1255+1G>A rs1554702262
NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs) rs886038954
NM_004612.4(TGFBR1):c.1391dup (p.Leu464fs)
NM_004612.4(TGFBR1):c.1395_1396dup (p.Val466fs)
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1453_1473del (p.Ala485_Thr491del) rs1827902114
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) rs113605875
NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) rs1554698926
NM_004612.4(TGFBR1):c.236_237insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGAATGATCACCTGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGACTTAATTCC (p.Pro79_Arg80insAlaGlyArgGlyGlySerArgLeuTer)
NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter) rs1827126921
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004612.4(TGFBR1):c.516dup (p.Glu173fs) rs2118630690
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) rs121918712
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) rs1554700603
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004612.4(TGFBR1):c.643C>T (p.Arg215Ter)
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.686T>C (p.Val229Ala)
NM_004612.4(TGFBR1):c.694A>T (p.Lys232Ter)
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) rs1060502046
NM_004612.4(TGFBR1):c.715G>A (p.Glu239Lys)
NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) rs886038783
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter) rs1057524497
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter) rs1554700672
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) rs863223819
NM_004612.4(TGFBR1):c.833dup (p.Leu278fs) rs1827647395
NM_004612.4(TGFBR1):c.836T>C (p.Val279Ala)
NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) rs1554701447
NM_004612.4(TGFBR1):c.90_91delinsT (p.Ala31fs)
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) rs1060502045
NM_004612.4(TGFBR1):c.947_952delinsC (p.Leu316fs)
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) rs121918710
NM_004612.4(TGFBR1):c.973+1G>T
NM_004612.4(TGFBR1):c.974-1G>A rs2118803591
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881
NM_004612.4(TGFBR1):c.980del (p.Pro327fs)

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