ClinVar Miner

List of variants in gene TGFB3 reported as likely benign for Loeys-Dietz syndrome

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
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.354C>T (p.Asn118=) rs145051522 0.00029
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) rs201059075 0.00023
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.101A>G (p.His34Arg) rs199791687 0.00008
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.192C>T (p.His64=) rs374423962 0.00004
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) rs753250192 0.00004
NM_003239.5(TGFB3):c.351C>T (p.His117=) rs375232060 0.00004
NM_003239.5(TGFB3):c.519C>T (p.Ile173=) rs754898843 0.00004
NM_003239.5(TGFB3):c.755-7T>G rs750868828 0.00004
NM_003239.5(TGFB3):c.926+17A>G rs374932970 0.00004
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.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.693C>T (p.Thr231=) rs780510419 0.00002
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=) rs1386754558 0.00001
NM_003239.5(TGFB3):c.1137G>A (p.Val379=) rs751480221 0.00001
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=) rs373100223 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 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.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.471C>G (p.Pro157=) rs768917005 0.00001
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) rs1555360832 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.534G>A (p.Glu178=) rs148895204 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.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.840C>T (p.Leu280=) rs746293134 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.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.957C>T (p.Pro319=) rs977821614 0.00001
NM_003239.5(TGFB3):c.99C>T (p.Gly33=) rs757663439 0.00001
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=) rs2035149393
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)
NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)
NM_003239.5(TGFB3):c.1074C>T (p.His358=) rs2140236128
NM_003239.5(TGFB3):c.1080+14T>A
NM_003239.5(TGFB3):c.1081-10C>A
NM_003239.5(TGFB3):c.1081-12G>A
NM_003239.5(TGFB3):c.1081-8C>G rs773558367
NM_003239.5(TGFB3):c.1081-8C>T rs773558367
NM_003239.5(TGFB3):c.1083G>T (p.Val361=) rs1595336749
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=) rs1555360032
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
NM_003239.5(TGFB3):c.1194G>A (p.Val398=) rs767894523
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=) rs1231643522
NM_003239.5(TGFB3):c.135A>T (p.Gly45=) rs759608485
NM_003239.5(TGFB3):c.144G>A (p.Leu48=) rs1479160942
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.162C>T (p.Thr54=)
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
NM_003239.5(TGFB3):c.171T>C (p.Pro57=) rs768225719
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
NM_003239.5(TGFB3):c.180G>A (p.Thr60=) rs1594792436
NM_003239.5(TGFB3):c.210G>C (p.Leu70=) rs2140254337
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
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.291G>A (p.Glu97=) rs1286432002
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
NM_003239.5(TGFB3):c.345G>A (p.Ala115=) rs1060504730
NM_003239.5(TGFB3):c.352+10A>G
NM_003239.5(TGFB3):c.352+13T>C
NM_003239.5(TGFB3):c.352+17G>A
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.353-4C>G
NM_003239.5(TGFB3):c.353-5C>T rs1355725139
NM_003239.5(TGFB3):c.438A>G (p.Leu146=) rs2140245833
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
NM_003239.5(TGFB3):c.441C>T (p.Phe147=) rs560468476
NM_003239.5(TGFB3):c.471C>T (p.Pro157=) rs768917005
NM_003239.5(TGFB3):c.498G>A (p.Gln166=) rs886050796
NM_003239.5(TGFB3):c.516+18G>C rs1594787972
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.525G>C (p.Arg175=)
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
NM_003239.5(TGFB3):c.57G>C (p.Thr19=) rs1325304886
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+9A>G rs903703321
NM_003239.5(TGFB3):c.647-17T>C rs937023243
NM_003239.5(TGFB3):c.66C>T (p.Leu22=)
NM_003239.5(TGFB3):c.684A>G (p.Pro228=) rs745821422
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.714C>T (p.Ile238=)
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
NM_003239.5(TGFB3):c.750C>T (p.Phe250=) rs2140240196
NM_003239.5(TGFB3):c.754+11G>T
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.755-6C>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.777T>C (p.His259=) rs1595339249
NM_003239.5(TGFB3):c.795G>A (p.Gly265=) rs1213571239
NM_003239.5(TGFB3):c.810G>A (p.Gln270=) rs1595339194
NM_003239.5(TGFB3):c.832C>T (p.Leu278=) rs2035182890
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
NM_003239.5(TGFB3):c.864C>T (p.Leu288=)
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+9G>A rs771442662
NM_003239.5(TGFB3):c.927-14G>A
NM_003239.5(TGFB3):c.927-15T>C
NM_003239.5(TGFB3):c.927-6T>C
NM_003239.5(TGFB3):c.927-7G>A rs2140236302
NM_003239.5(TGFB3):c.951G>A (p.Val317=)
NM_003239.5(TGFB3):c.954C>T (p.Arg318=) rs1595337745
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)

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