ClinVar Miner

List of variants in gene TGFB3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.926+290G>T rs2359994 0.84966
NM_003239.5(TGFB3):c.754+257A>G rs3917192 0.82708
NM_003239.5(TGFB3):c.926+104G>A rs3917201 0.70713
NM_003239.5(TGFB3):c.647-98A>G rs3917187 0.64994
NM_003239.5(TGFB3):c.755-38T>C rs3917200 0.14180
NM_003239.5(TGFB3):c.352+236T>C rs3917147 0.11929
NM_003239.5(TGFB3):c.754+139A>G rs3917190 0.04365
NM_003239.5(TGFB3):c.*666A>G rs4252348 0.02476
NM_003239.5(TGFB3):c.926+188G>A rs3917202 0.02072
NM_003239.5(TGFB3):c.754+293T>A rs3917193 0.01979
NM_003239.5(TGFB3):c.*696T>C rs10129478 0.01788
NM_003239.5(TGFB3):c.516+135T>C rs3917175 0.01560
NM_003239.5(TGFB3):c.*820G>A rs3917218 0.01459
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_003239.5(TGFB3):c.*682G>A rs4252349 0.00758
NM_003239.5(TGFB3):c.*9G>A rs4252346 0.00679
NM_003239.5(TGFB3):c.*255C>T rs4252347 0.00653
NM_003239.5(TGFB3):c.352+115G>C rs112619396 0.00563
NM_003239.5(TGFB3):c.*824T>C rs116586110 0.00502
NM_003239.5(TGFB3):c.1080+163T>C rs115411167 0.00502
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
NM_003239.5(TGFB3):c.755-307A>C rs11466436 0.00456
NM_003239.5(TGFB3):c.1081-146G>A rs4252344 0.00385
NM_003239.5(TGFB3):c.516+37G>A rs74723274 0.00289
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.34C>T (p.Leu12=) rs143612445 0.00096
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003239.5(TGFB3):c.646+13T>C rs780891440 0.00076
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met) rs4252315 0.00066
NM_003239.5(TGFB3):c.*496G>A rs3917217 0.00058
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_003239.5(TGFB3):c.354C>T (p.Asn118=) rs145051522 0.00029
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) rs201059075 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
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.88T>C (p.Leu30=) rs3917145 0.00013
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_003239.5(TGFB3):c.*185C>T rs3917216 0.00009
NM_003239.5(TGFB3):c.558C>T (p.Ile186=) rs138389291 0.00009
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) rs147601018 0.00009
NM_003239.5(TGFB3):c.-31C>T rs375120782 0.00008
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
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.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_003239.5(TGFB3):c.*8C>T rs3917215 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn) rs757664433 0.00004
NM_003239.5(TGFB3):c.192C>T (p.His64=) rs374423962 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003239.5(TGFB3):c.519C>T (p.Ile173=) rs754898843 0.00004
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) rs779897294 0.00004
NM_003239.5(TGFB3):c.792G>A (p.Leu264=) rs375034484 0.00004
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) rs1018415204 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_003239.5(TGFB3):c.*13G>A rs375846390 0.00003
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) rs757031677 0.00003
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.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003239.5(TGFB3):c.948T>C (p.Cys316=) rs1364994786 0.00003
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) rs1474433492 0.00002
NM_003239.5(TGFB3):c.1066A>G (p.Thr356Ala) rs1167674615 0.00001
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met) rs750299821 0.00001
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala) rs759168311 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.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys) rs1555361455 0.00001
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) rs780051351 0.00001
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys) rs752691299 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.471C>G (p.Pro157=) rs768917005 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln) rs1319852054 0.00001
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys) rs767125999 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.752A>G (p.Lys251Arg) rs755309898 0.00001
NM_003239.5(TGFB3):c.755-5T>C rs768188445 0.00001
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.798C>T (p.Arg266=) rs772654040 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.916T>C (p.Tyr306His) rs1299759608 0.00001
NM_003239.5(TGFB3):c.927-19T>C rs199714510 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.*482del rs199646113
NM_003239.5(TGFB3):c.*505G>A rs886050793
NM_003239.5(TGFB3):c.-1048GGAGAG[2] rs151325226
NM_003239.5(TGFB3):c.-1C>T
NM_003239.5(TGFB3):c.-536dup rs71451199
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) rs1021920873
NM_003239.5(TGFB3):c.1020T>A (p.Tyr340Ter) rs778990969
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1034C>T (p.Ser345Leu)
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) rs755084678
NM_003239.5(TGFB3):c.104T>C (p.Ile35Thr)
NM_003239.5(TGFB3):c.106A>T (p.Lys36Ter) rs1555361451
NM_003239.5(TGFB3):c.1080+13C>T rs1242820215
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1081-8C>T rs773558367
NM_003239.5(TGFB3):c.10C>A (p.His4Asn)
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003239.5(TGFB3):c.1143G>T (p.Gln381His) rs893375581
NM_003239.5(TGFB3):c.1146C>T (p.Asp382=) rs1595336694
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) rs1555360027
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1222T>C (p.Ser408Pro) rs2140234552
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr) rs765490133
NM_003239.5(TGFB3):c.130A>T (p.Arg44Trp) rs2140254560
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr) rs2140254503
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp) rs1441479444
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) rs375153534
NM_003239.5(TGFB3):c.227C>T (p.Thr76Ile) rs2140254321
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp) rs150817760
NM_003239.5(TGFB3):c.23C>T (p.Ala8Val)
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) rs1379970824
NM_003239.5(TGFB3):c.275C>T (p.Thr92Ile) rs2140254225
NM_003239.5(TGFB3):c.301T>A (p.Tyr101Asn) rs1380630603
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His) rs1380630603
NM_003239.5(TGFB3):c.31G>A (p.Val11Ile)
NM_003239.5(TGFB3):c.321dup (p.Phe108fs) rs1555361385
NM_003239.5(TGFB3):c.352+2T>C
NM_003239.5(TGFB3):c.352+331G>A rs111897020
NM_003239.5(TGFB3):c.354C>A (p.Asn118Lys)
NM_003239.5(TGFB3):c.368G>A (p.Cys123Tyr)
NM_003239.5(TGFB3):c.38C>T (p.Ala13Val)
NM_003239.5(TGFB3):c.428G>C (p.Arg143Thr)
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
NM_003239.5(TGFB3):c.441C>G (p.Phe147Leu)
NM_003239.5(TGFB3):c.441C>T (p.Phe147=) rs560468476
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.448G>A (p.Glu150Lys) rs2140245800
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) rs925224125
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.514C>T (p.Gln172Ter) rs1594787989
NM_003239.5(TGFB3):c.516G>A (p.Gln172=) rs1594787985
NM_003239.5(TGFB3):c.517-10T>C rs375794497
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu) rs2035287327
NM_003239.5(TGFB3):c.551G>A (p.Arg184His) rs996991722
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
NM_003239.5(TGFB3):c.583G>A (p.Gly195Ser)
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
NM_003239.5(TGFB3):c.600G>T (p.Leu200=) rs1594787709
NM_003239.5(TGFB3):c.614C>A (p.Thr205Asn)
NM_003239.5(TGFB3):c.621del (p.Val208fs) rs2140245186
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
NM_003239.5(TGFB3):c.623_624del (p.Val208fs) rs2140245174
NM_003239.5(TGFB3):c.647-80del rs3917188
NM_003239.5(TGFB3):c.661C>T (p.Leu221=) rs1595340555
NM_003239.5(TGFB3):c.662T>C (p.Leu221Pro) rs2140240280
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.754+5C>T rs754211381
NM_003239.5(TGFB3):c.754+6_754+10del rs1414628117
NM_003239.5(TGFB3):c.754G>A (p.Gly252Ser) rs1057524806
NM_003239.5(TGFB3):c.755-1G>C rs1566679646
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.826C>T (p.Pro276Ser) rs1057522944
NM_003239.5(TGFB3):c.827C>T (p.Pro276Leu) rs2140238230
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.883G>A (p.Gly295Ser)
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln) rs2035181062
NM_003239.5(TGFB3):c.896A>C (p.Lys299Thr)
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003239.5(TGFB3):c.901G>T (p.Ala301Ser) rs2035180741
NM_003239.5(TGFB3):c.905T>C (p.Leu302Ser) rs2140238082
NM_003239.5(TGFB3):c.926+147_926+148del rs199778146
NM_003239.5(TGFB3):c.926+2T>A rs2140238043
NM_003239.5(TGFB3):c.926+9G>A rs771442662
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del) rs760903557
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263
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.974G>T (p.Arg325Leu) rs771391164
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222
NM_003239.5(TGFB3):c.996G>T (p.Trp332Cys) rs2140236210

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