ClinVar Miner

List of variants in gene TGFBR2 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.94+7699G>A rs6791557 0.43764
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34810
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03644
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02791
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00127
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00005
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1039C>T (p.Leu347=) rs1247177623
NM_003242.6(TGFBR2):c.1061_1063delinsCCC (p.Leu354_Ala355delinsProPro)
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.960A>G (p.Gln320=) rs1699352505

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