ClinVar Miner

List of variants in gene TGFB3 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) rs147601018 0.00009
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) rs371230847 0.00006
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn) rs757664433 0.00004
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) rs779897294 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) rs757031677 0.00003
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) rs142069844 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) rs766164843 0.00002
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys) rs749485028 0.00001
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr) rs1474531974 0.00001
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met) rs750299821 0.00001
NM_003239.5(TGFB3):c.10C>T (p.His4Tyr) rs997664741 0.00001
NM_003239.5(TGFB3):c.11A>G (p.His4Arg) rs371772819 0.00001
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu) rs367967889 0.00001
NM_003239.5(TGFB3):c.223A>G (p.Ser75Gly) rs778796326 0.00001
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) rs769627183 0.00001
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) rs780051351 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) rs368004396 0.00001
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys) rs1085307755 0.00001
NM_003239.5(TGFB3):c.755-5T>C rs768188445 0.00001
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) rs2035183279 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro) rs759234781 0.00001
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) rs369281541 0.00001
NM_003239.5(TGFB3):c.927-4G>A rs201637508 0.00001
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile) rs1194816649 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003239.5(TGFB3):c.-1C>T
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) rs1021920873
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His) rs755894337
NM_003239.5(TGFB3):c.107A>C (p.Lys36Thr)
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) rs1257515732
NM_003239.5(TGFB3):c.1080G>C (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1108C>G (p.Pro370Ala) rs1555360046
NM_003239.5(TGFB3):c.1117T>C (p.Ser373Pro)
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) rs780254258
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003239.5(TGFB3):c.1150G>C (p.Glu384Gln)
NM_003239.5(TGFB3):c.1208A>G (p.Asn403Ser)
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
NM_003239.5(TGFB3):c.1231T>G (p.Cys411Gly)
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp) rs1441479444
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.188C>T (p.Thr63Ile)
NM_003239.5(TGFB3):c.194T>C (p.Val65Ala)
NM_003239.5(TGFB3):c.200A>G (p.Tyr67Cys)
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser) rs1279947435
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp) rs150817760
NM_003239.5(TGFB3):c.275C>A (p.Thr92Asn)
NM_003239.5(TGFB3):c.281A>G (p.Glu94Gly)
NM_003239.5(TGFB3):c.323T>C (p.Phe108Ser) rs1555361384
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn) rs986180095
NM_003239.5(TGFB3):c.338G>A (p.Gly113Glu) rs1555361380
NM_003239.5(TGFB3):c.351C>G (p.His117Gln)
NM_003239.5(TGFB3):c.353-4C>G
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
NM_003239.5(TGFB3):c.395T>C (p.Phe132Ser) rs1555360876
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
NM_003239.5(TGFB3):c.398G>A (p.Arg133His) rs761890018
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) rs1422804503
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn) rs1594788076
NM_003239.5(TGFB3):c.436C>A (p.Leu146Ile)
NM_003239.5(TGFB3):c.48C>G (p.Asn16Lys)
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met) rs148029842
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys) rs1555360808
NM_003239.5(TGFB3):c.527C>T (p.Pro176Leu)
NM_003239.5(TGFB3):c.548A>G (p.Gln183Arg)
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
NM_003239.5(TGFB3):c.55A>G (p.Thr19Ala)
NM_003239.5(TGFB3):c.581G>C (p.Arg194Pro) rs760707107
NM_003239.5(TGFB3):c.583G>T (p.Gly195Cys)
NM_003239.5(TGFB3):c.626G>C (p.Arg209Pro)
NM_003239.5(TGFB3):c.650C>G (p.Ser217Cys)
NM_003239.5(TGFB3):c.65T>A (p.Leu22His)
NM_003239.5(TGFB3):c.68C>G (p.Ser23Cys)
NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu) rs1349938834
NM_003239.5(TGFB3):c.704A>G (p.Asn235Ser)
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) rs1045402283
NM_003239.5(TGFB3):c.754+5C>T rs754211381
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.760G>T (p.Asp254Tyr)
NM_003239.5(TGFB3):c.766G>A (p.Glu256Lys)
NM_003239.5(TGFB3):c.778G>A (p.Gly260Ser)
NM_003239.5(TGFB3):c.782G>C (p.Arg261Pro) rs547264290
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.809A>G (p.Gln270Arg)
NM_003239.5(TGFB3):c.816T>A (p.Asp272Glu)
NM_003239.5(TGFB3):c.821A>T (p.His274Leu)
NM_003239.5(TGFB3):c.830_832del (p.His277del) rs1555360376
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
NM_003239.5(TGFB3):c.854C>G (p.Pro285Arg)
NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg) rs2035150933
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_003239.5(TGFB3):c.964A>G (p.Ile322Val) rs1555360234
NM_003239.5(TGFB3):c.96C>A (p.Phe32Leu) rs748977151
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.974G>T (p.Arg325Leu) rs771391164
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys) rs2035150012
NM_003239.5(TGFB3):c.986G>A (p.Gly329Asp)
NM_003239.5(TGFB3):c.995G>T (p.Trp332Leu) rs1555360218

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