ClinVar Miner

List of variants in gene TGFB3 studied for Arrhythmogenic right ventricular cardiomyopathy

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003239.5(TGFB3):c.-547dup rs886050802 0.00014
NM_003239.5(TGFB3):c.*185C>T rs3917216 0.00009
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys) rs770911263 0.00002
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_003239.5(TGFB3):c.916T>C (p.Tyr306His) rs1299759608 0.00001
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.-536dup rs71451199
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln) rs1288935716

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