ClinVar Miner

List of variants in gene TGFB3 reported as uncertain significance for Loeys-Dietz syndrome

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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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.-547dup rs886050802 0.00014
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.-30G>A rs770828281 0.00004
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.850C>T (p.Pro284Ser) rs1018415204 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.529G>A (p.Asp177Asn) rs755611135 0.00002
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) rs1474433492 0.00002
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) rs766164843 0.00002
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala) rs768423844 0.00002
NM_003239.5(TGFB3):c.*495C>T rs387906514 0.00001
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn) rs1400200743 0.00001
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.1150G>A (p.Glu384Lys) rs1304975316 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.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) rs769627183 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.443G>A (p.Arg148Gln) rs776388495 0.00001
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp) rs546744152 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 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.56C>T (p.Thr19Met) rs770761155 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.769G>T (p.Asp257Tyr) rs2035184083 0.00001
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg) rs771638085 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.94T>A (p.Phe32Ile) rs1194816649 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NC_000014.8:g.(?_76425530)_(76432058_?)dup
NC_000014.8:g.(?_76437449)_(76438081_?)del
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) rs1021920873
NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)
NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) rs755084678
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His) rs755894337
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs) rs2035148543
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly) rs2035148476
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) rs1257515732
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) rs780254258
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu) rs1446755738
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr) rs1060502828
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp) rs759168311
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro) rs1566677868
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala) rs1566677868
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser) rs899613458
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg) rs2035122885
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr) rs765490133
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe) rs2140254535
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.155G>A (p.Arg52Lys)
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr) rs2035417379
NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile) rs2140254476
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile) rs2140254405
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) rs375153534
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.230G>C (p.Arg77Pro) rs1036545575
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) rs1379970824
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His) rs1380630603
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn) rs986180095
NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) rs2035412849
NM_003239.5(TGFB3):c.352+124C>G
NM_003239.5(TGFB3):c.352+2dup rs1566686800
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
NM_003239.5(TGFB3):c.364G>C (p.Val122Leu)
NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe)
NM_003239.5(TGFB3):c.398G>A (p.Arg133His) rs761890018
NM_003239.5(TGFB3):c.406G>A (p.Val136Met)
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del) rs2035294881
NM_003239.5(TGFB3):c.40C>A (p.Leu14Met)
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) rs1422804503
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro) rs2140254745
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys) rs532403511
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile) rs532403511
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn) rs1594788076
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser) rs752691299
NM_003239.5(TGFB3):c.458T>A (p.Val153Asp)
NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) rs925224125
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala) rs2035293604
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu) rs920721092
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.50T>G (p.Phe17Cys)
NM_003239.5(TGFB3):c.516+4A>T rs1252391096
NM_003239.5(TGFB3):c.516+5C>T rs2035292365
NM_003239.5(TGFB3):c.517-3T>C rs2035287934
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
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.590C>T (p.Ala197Val)
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser) rs2035285904
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala) rs1555360774
NM_003239.5(TGFB3):c.622G>A (p.Val208Met) rs2035285476
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys) rs1331488615
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys) rs2140245156
NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile) rs2140240288
NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr) rs1280447804
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg) rs2035212440
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr) rs2140240237
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) rs1045402283
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val) rs2035211931
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
NM_003239.5(TGFB3):c.754+5C>T rs754211381
NM_003239.5(TGFB3):c.754+6_754+10del rs1414628117
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp) rs2140238325
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys) rs560321456
NM_003239.5(TGFB3):c.782G>A (p.Arg261His) rs547264290
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.830A>G (p.His277Arg) rs1382239332
NM_003239.5(TGFB3):c.830_832del (p.His277del) rs1555360376
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile) rs2035419470
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr) rs1325349711
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser) rs773168068
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln) rs2035181062
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr) rs2035180741
NM_003239.5(TGFB3):c.907G>C (p.Asp303His) rs2035180646
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr) rs369281541
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) rs2035180317
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.927-10T>G rs2140236310
NM_003239.5(TGFB3):c.927-6T>A rs1555360247
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr) rs1194831540
NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del) rs760903557
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg) rs2035150933
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) rs771391164
NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys) rs2035150012
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala) rs772698647
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)

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