ClinVar Miner

List of variants in gene TGFB3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
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.813G>C (p.Lys271Asn) rs147601018 0.00009
NM_003239.5(TGFB3):c.519C>T (p.Ile173=) rs754898843 0.00004
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) rs142069844 0.00003
NM_003239.5(TGFB3):c.948T>C (p.Cys316=) rs1364994786 0.00003
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.1146C>T (p.Asp382=) rs1595336694
NM_003239.5(TGFB3):c.516G>A (p.Gln172=) rs1594787985
NM_003239.5(TGFB3):c.623_624del (p.Val208fs) rs2140245174
NM_003239.5(TGFB3):c.69T>C (p.Ser23=) rs1167977988
NM_003239.5(TGFB3):c.711T>C (p.Asp237=) rs1206735679
NM_003239.5(TGFB3):c.755-1G>C rs1566679646
NM_003239.5(TGFB3):c.926+2T>A rs2140238043
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.996G>T (p.Trp332Cys) rs2140236210

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