ClinVar Miner

List of variants in gene TGFB3 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_003239.5(TGFB3):c.*9G>A rs4252346 0.00679
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) rs148029842 0.00006
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) rs748977151 0.00006
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_003239.5(TGFB3):c.927-4G>A rs201637508 0.00001
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1143G>T (p.Gln381His) rs893375581
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
NM_003239.5(TGFB3):c.696dup (p.Gln233fs)
NM_003239.5(TGFB3):c.782G>C (p.Arg261Pro) rs547264290
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.979G>T (p.Asp327Tyr) rs747427366

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