ClinVar Miner

List of variants in gene TGFB3 studied for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 416
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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.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.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.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.-547dup rs886050802 0.00014
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.558C>T (p.Ile186=) rs138389291 0.00009
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) rs147601018 0.00009
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.235C>G (p.Leu79Val) rs371230847 0.00006
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) rs148029842 0.00006
NM_003239.5(TGFB3):c.517-6C>G rs45586636 0.00006
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) rs748977151 0.00006
NM_003239.5(TGFB3):c.1081-14A>G rs201379167 0.00005
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.192C>T (p.His64=) rs374423962 0.00004
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) rs753250192 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003239.5(TGFB3):c.351C>T (p.His117=) rs375232060 0.00004
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) rs749768136 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.755-7T>G rs750868828 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.926+17A>G rs374932970 0.00004
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) rs757031677 0.00003
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=) rs753453972 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.1134C>T (p.Cys378=) rs780993645 0.00002
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.529G>A (p.Asp177Asn) rs755611135 0.00002
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) rs1474433492 0.00002
NM_003239.5(TGFB3):c.693C>T (p.Thr231=) rs780510419 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.927-20A>G rs574227787 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.1050C>T (p.Tyr350=) rs1386754558 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.1137G>A (p.Val379=) rs751480221 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.1230A>G (p.Lys410=) rs373100223 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.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys) rs1555361455 0.00001
NM_003239.5(TGFB3):c.339G>A (p.Gly113=) rs886050798 0.00001
NM_003239.5(TGFB3):c.369C>T (p.Cys123=) rs1457776871 0.00001
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) rs780051351 0.00001
NM_003239.5(TGFB3):c.393T>C (p.Val131=) rs1302391555 0.00001
NM_003239.5(TGFB3):c.405T>C (p.Asn135=) rs756208950 0.00001
NM_003239.5(TGFB3):c.420G>A (p.Glu140=) rs878854609 0.00001
NM_003239.5(TGFB3):c.435C>T (p.Asn145=) rs2035294472 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.471C>G (p.Pro157=) rs768917005 0.00001
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) rs1555360832 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.516+14C>T rs757567007 0.00001
NM_003239.5(TGFB3):c.516+15A>G rs199930875 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.534G>A (p.Glu178=) rs148895204 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.612C>T (p.Val204=) rs1000679465 0.00001
NM_003239.5(TGFB3):c.729C>T (p.His243=) rs746620931 0.00001
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys) rs1085307755 0.00001
NM_003239.5(TGFB3):c.755-20A>C rs747852718 0.00001
NM_003239.5(TGFB3):c.755-5T>C rs768188445 0.00001
NM_003239.5(TGFB3):c.75C>T (p.Ser25=) rs773168115 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.798C>T (p.Arg266=) rs772654040 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.840C>T (p.Leu280=) rs746293134 0.00001
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro) rs759234781 0.00001
NM_003239.5(TGFB3):c.897G>A (p.Lys299=) rs771455698 0.00001
NM_003239.5(TGFB3):c.900G>C (p.Arg300=) rs761439201 0.00001
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) rs369281541 0.00001
NM_003239.5(TGFB3):c.926+8_926+9del rs1491398509 0.00001
NM_003239.5(TGFB3):c.927-19T>C rs199714510 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.957C>T (p.Pro319=) rs977821614 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003239.5(TGFB3):c.99C>T (p.Gly33=) rs757663439 0.00001
NC_000014.8:g.(?_76425530)_(76432058_?)del
NC_000014.8:g.(?_76425530)_(76432058_?)dup
NC_000014.8:g.(?_76437449)_(76438081_?)del
NC_000014.9:g.(?_75958692)_(75980923_?)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.1023C>T (p.Ala341=) rs2035149393
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
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.1059T>C (p.Ser353=)
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.1065C>T (p.Asp355=)
NM_003239.5(TGFB3):c.1074C>T (p.His358=) rs2140236128
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) rs1257515732
NM_003239.5(TGFB3):c.1080+14T>A
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.1081-10C>A
NM_003239.5(TGFB3):c.1081-12G>A
NM_003239.5(TGFB3):c.1081-1G>A
NM_003239.5(TGFB3):c.1081-8C>G rs773558367
NM_003239.5(TGFB3):c.1081-8C>T rs773558367
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
NM_003239.5(TGFB3):c.1083G>T (p.Val361=) rs1595336749
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) rs780254258
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu) rs1446755738
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
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.1149G>A (p.Leu383=) rs1555360032
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp) rs759168311
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
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.1194G>A (p.Val398=) rs767894523
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) rs1555360027
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter) rs1248127840
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) rs398122984
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=) rs1231643522
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.135A>T (p.Gly45=) rs759608485
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe) rs2140254535
NM_003239.5(TGFB3):c.144G>A (p.Leu48=) rs1479160942
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr) rs2140254503
NM_003239.5(TGFB3):c.150G>A (p.Lys50=) rs1330137432
NM_003239.5(TGFB3):c.153C>T (p.Leu51=) rs760506739
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.162C>T (p.Thr54=)
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)
NM_003239.5(TGFB3):c.170del (p.Pro57fs)
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) rs2140254449
NM_003239.5(TGFB3):c.171T>C (p.Pro57=) rs768225719
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
NM_003239.5(TGFB3):c.180G>A (p.Thr60=) rs1594792436
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.210G>C (p.Leu70=) rs2140254337
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
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.231G>A (p.Arg77=)
NM_003239.5(TGFB3):c.237G>A (p.Leu79=) rs2140254299
NM_003239.5(TGFB3):c.237G>T (p.Leu79=)
NM_003239.5(TGFB3):c.258G>A (p.Glu86=) rs761683627
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) rs1379970824
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
NM_003239.5(TGFB3):c.291G>A (p.Glu97=) rs1286432002
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His) rs1380630603
NM_003239.5(TGFB3):c.321dup (p.Phe108fs) rs1555361385
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.345G>A (p.Ala115=) rs1060504730
NM_003239.5(TGFB3):c.352+10A>G
NM_003239.5(TGFB3):c.352+124C>G
NM_003239.5(TGFB3):c.352+13T>C
NM_003239.5(TGFB3):c.352+17G>A
NM_003239.5(TGFB3):c.352+2dup rs1566686800
NM_003239.5(TGFB3):c.353-14G>T rs886050797
NM_003239.5(TGFB3):c.353-14_353-10del rs1422599707
NM_003239.5(TGFB3):c.353-19G>C
NM_003239.5(TGFB3):c.353-1G>C rs1555360883
NM_003239.5(TGFB3):c.353-4C>G
NM_003239.5(TGFB3):c.353-5C>T rs1355725139
NM_003239.5(TGFB3):c.355del (p.Glu119fs) rs2140246004
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.397C>T (p.Arg133Cys)
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.427A>T (p.Arg143Ter)
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.436del (p.Leu146fs) rs2140245836
NM_003239.5(TGFB3):c.438A>G (p.Leu146=) rs2140245833
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser) rs752691299
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.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.471C>T (p.Pro157=) rs768917005
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu) rs920721092
NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)
NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)
NM_003239.5(TGFB3):c.498G>A (p.Gln166=) rs886050796
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+18G>C rs1594787972
NM_003239.5(TGFB3):c.516+1G>T
NM_003239.5(TGFB3):c.516+4A>T rs1252391096
NM_003239.5(TGFB3):c.516+5C>T rs2035292365
NM_003239.5(TGFB3):c.516+8C>A rs2035292281
NM_003239.5(TGFB3):c.516+9T>C rs2140245664
NM_003239.5(TGFB3):c.517-10T>C rs375794497
NM_003239.5(TGFB3):c.517-13C>T
NM_003239.5(TGFB3):c.517-18C>G
NM_003239.5(TGFB3):c.517-1G>C rs1566682530
NM_003239.5(TGFB3):c.517-2A>G rs2035287906
NM_003239.5(TGFB3):c.517-3T>C rs2035287934
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu) rs2035287327
NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)
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.57G>A (p.Thr19=)
NM_003239.5(TGFB3):c.57G>C (p.Thr19=) rs1325304886
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.621del (p.Val208fs) rs2140245186
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.638del (p.Leu212_Leu213insTer)
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
NM_003239.5(TGFB3):c.646+16A>T
NM_003239.5(TGFB3):c.646+17G>T
NM_003239.5(TGFB3):c.646+18A>C
NM_003239.5(TGFB3):c.646+1G>T
NM_003239.5(TGFB3):c.646+9A>G rs903703321
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys) rs2140245156
NM_003239.5(TGFB3):c.647-17T>C rs937023243
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.66C>T (p.Leu22=)
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr) rs1280447804
NM_003239.5(TGFB3):c.684A>G (p.Pro228=) rs745821422
NM_003239.5(TGFB3):c.704del (p.Asn235fs) rs875989817
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg) rs2035212440
NM_003239.5(TGFB3):c.708A>G (p.Gly236=) rs2035212392
NM_003239.5(TGFB3):c.711T>C (p.Asp237=) rs1206735679
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr) rs2140240237
NM_003239.5(TGFB3):c.714C>T (p.Ile238=)
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
NM_003239.5(TGFB3):c.722del (p.Asn241fs)
NM_003239.5(TGFB3):c.723del (p.Asn241fs) rs2140240223
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) rs1045402283
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val) rs2035211931
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
NM_003239.5(TGFB3):c.750C>T (p.Phe250=) rs2140240196
NM_003239.5(TGFB3):c.754+11G>T
NM_003239.5(TGFB3):c.754+1G>A
NM_003239.5(TGFB3):c.754+2T>C rs875989816
NM_003239.5(TGFB3):c.754+5C>T rs754211381
NM_003239.5(TGFB3):c.754+6_754+10del rs1414628117
NM_003239.5(TGFB3):c.755-10C>T
NM_003239.5(TGFB3):c.755-14C>T
NM_003239.5(TGFB3):c.755-16del
NM_003239.5(TGFB3):c.755-18T>C
NM_003239.5(TGFB3):c.755-1G>A
NM_003239.5(TGFB3):c.755-6C>G rs1283455840
NM_003239.5(TGFB3):c.756C>A (p.Gly252=)
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
NM_003239.5(TGFB3):c.777T>C (p.His259=) rs1595339249
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.787G>C (p.Asp263His) rs796051886
NM_003239.5(TGFB3):c.795G>A (p.Gly265=) rs1213571239
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.5(TGFB3):c.810G>A (p.Gln270=) rs1595339194
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.832C>T (p.Leu278=) rs2035182890
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
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.864C>T (p.Leu288=)
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
NM_003239.5(TGFB3):c.878del (p.Gln293fs)
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
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.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
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.912dup (p.Asn305fs)
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr) rs369281541
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) rs1555360362
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) rs2035180317
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) rs575379914
NM_003239.5(TGFB3):c.926+11G>A rs2035179873
NM_003239.5(TGFB3):c.926+11del rs2140238030
NM_003239.5(TGFB3):c.926+12C>T
NM_003239.5(TGFB3):c.926+19G>C
NM_003239.5(TGFB3):c.926+19_926+30del
NM_003239.5(TGFB3):c.926+1G>A rs2035180096
NM_003239.5(TGFB3):c.926+1G>T rs2035180096
NM_003239.5(TGFB3):c.926+9G>A rs771442662
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) rs1057524768
NM_003239.5(TGFB3):c.927-10T>G rs2140236310
NM_003239.5(TGFB3):c.927-13dup rs1303198865
NM_003239.5(TGFB3):c.927-14G>A
NM_003239.5(TGFB3):c.927-15T>C
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003239.5(TGFB3):c.927-6T>A rs1555360247
NM_003239.5(TGFB3):c.927-6T>C
NM_003239.5(TGFB3):c.927-7G>A rs2140236302
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.951G>A (p.Val317=)
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
NM_003239.5(TGFB3):c.954C>T (p.Arg318=) rs1595337745
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)
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.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.989G>A (p.Trp330Ter) rs1555360222
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter) rs2140236217
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter) rs2140236210
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)

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