ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance for Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Hereditary nonpolyposis colorectal cancer type 6

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Total variants: 7
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HGVS dbSNP
NM_001024847.2(TGFBR2):c.166C>A (p.His56Asn) rs138262219
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)

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