ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.94+16278G>C rs557449314 0.00003
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376 0.00001
NM_001407129.1(TGFBR2):c.-33_-12+36del rs2125438034
NM_003242.6(TGFBR2):c.-13A>C rs1697931973
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1226C>T (p.Ser409Phe) rs1699361098
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
NM_003242.6(TGFBR2):c.1396+6T>A rs1559467901
NM_003242.6(TGFBR2):c.1397-6T>C rs2125451551
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1577A>T (p.Glu526Val) rs1699708566
NM_003242.6(TGFBR2):c.1673C>T (p.Pro558Leu)
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.683G>T (p.Ser228Ile) rs1559466786
NM_003242.6(TGFBR2):c.758G>T (p.Gly253Val) rs1699346690
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.907A>C (p.Asn303His) rs773932892

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