ClinVar Miner

List of variants in gene TGFBR2 reported by Blueprint Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1078C>G (p.His360Asp) rs189119533 0.00010
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu) rs748480163 0.00001
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1134G>T (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1156C>T (p.Leu386Phe) rs1575158103
NM_003242.6(TGFBR2):c.1215C>G (p.Asp405Glu) rs1575158153
NM_003242.6(TGFBR2):c.1267_1269dup (p.Arg423_Tyr424insArg) rs1575158901
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp) rs869025536

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