ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 4 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn) rs766536496 0.00008
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu) rs750324465 0.00006
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr) rs752823052 0.00005
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser) rs753572174 0.00004
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile) rs757551766 0.00003
NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser) rs141548795 0.00003
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln) rs751650226 0.00002
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln) rs781392453 0.00002
NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu) rs779872141 0.00002
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu) rs773943154 0.00001
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met) rs376159002 0.00001
NM_003238.6(TGFB2):c.156T>G (p.Ser52Arg) rs1431335293 0.00001
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr) rs1027195424 0.00001
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg) rs371241859 0.00001
NM_003238.6(TGFB2):c.305A>G (p.Glu102Gly) rs967581444 0.00001
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser) rs1300823855 0.00001
NM_003238.6(TGFB2):c.371G>A (p.Arg124Lys) rs863223789 0.00001
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp) rs773820426 0.00001
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr) rs886045975 0.00001
NM_003238.6(TGFB2):c.548G>A (p.Arg183His) rs773177511 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003238.6(TGFB2):c.686G>T (p.Cys229Phe) rs1185241582 0.00001
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser) rs769911912 0.00001
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp) rs781514831 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp) rs1212341043 0.00001
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu) rs1467391590 0.00001
NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg) rs1169804851 0.00001
NM_003238.6(TGFB2):c.893G>A (p.Arg298Gln) rs762561484 0.00001
NM_003238.6(TGFB2):c.910T>G (p.Leu304Val) rs1478901182 0.00001
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val) rs866788278 0.00001
NC_000001.10:g.(?_218607404)_(218607810_?)dup
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys) rs1476361240
NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys) rs1571820734
NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr) rs779554274
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu) rs748732392
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu) rs1660008608
NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg)
NM_003238.6(TGFB2):c.1062G>A (p.Trp354Ter) rs1558264130
NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly)
NM_003238.6(TGFB2):c.1086+1G>A rs1571904338
NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys)
NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)
NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)
NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)
NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe) rs1660141597
NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)
NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)
NM_003238.6(TGFB2):c.116C>T (p.Ala39Val) rs2102527478
NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)
NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met) rs2102634488
NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr) rs2102634517
NM_003238.6(TGFB2):c.1236dup (p.Cys413fs)
NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu) rs1558220033
NM_003238.6(TGFB2):c.137G>A (p.Ser46Asn) rs1318854254
NM_003238.6(TGFB2):c.13G>C (p.Val5Leu) rs1571820552
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg) rs1553292088
NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)
NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly) rs1656700353
NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro) rs1553292060
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser) rs747128130
NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)
NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)
NM_003238.6(TGFB2):c.208A>G (p.Ile70Val) rs1656702743
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr) rs765477784
NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)
NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val) rs1571821016
NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln) rs749309877
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del) rs1656708526
NM_003238.6(TGFB2):c.305A>T (p.Glu102Val) rs967581444
NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp)
NM_003238.6(TGFB2):c.322A>T (p.Met108Leu) rs1060501982
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu) rs1553292141
NM_003238.6(TGFB2):c.346+4_346+7del rs1558220436
NM_003238.6(TGFB2):c.346+5G>A rs886042712
NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys) rs2102594799
NM_003238.6(TGFB2):c.38A>G (p.His13Arg)
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln) rs758366080
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser) rs1658868781
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr) rs1264824521
NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)
NM_003238.6(TGFB2):c.445T>G (p.Phe149Val) rs896156575
NM_003238.6(TGFB2):c.449G>A (p.Arg150Lys) rs1658871071
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)
NM_003238.6(TGFB2):c.514C>T (p.Leu172Phe) rs1291056000
NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser) rs886045975
NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)
NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)
NM_003238.6(TGFB2):c.553A>G (p.Ile185Val) rs1558262183
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly) rs759729701
NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)
NM_003238.6(TGFB2):c.594G>T (p.Trp198Cys) rs2102626457
NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn) rs1656695125
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile) rs1659896577
NM_003238.6(TGFB2):c.619G>A (p.Val207Ile) rs10482810
NM_003238.6(TGFB2):c.635A>G (p.His212Arg)
NM_003238.6(TGFB2):c.638A>G (p.His213Arg)
NM_003238.6(TGFB2):c.638A>T (p.His213Leu)
NM_003238.6(TGFB2):c.643G>A (p.Asp215Asn) rs1571901234
NM_003238.6(TGFB2):c.644-14_644-13del
NM_003238.6(TGFB2):c.64_66del (p.Ser22del) rs2102527414
NM_003238.6(TGFB2):c.663A>T (p.Lys221Asn) rs863223791
NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile) rs957164399
NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys) rs1558262454
NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)
NM_003238.6(TGFB2):c.759_760delinsAT (p.Asp254Tyr) rs1553303162
NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)
NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)
NM_003238.6(TGFB2):c.792G>T (p.Gln264His)
NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)
NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr) rs559315266
NM_003238.6(TGFB2):c.831G>T (p.Lys277Asn) rs1304484008
NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser) rs1659961526
NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)
NM_003238.6(TGFB2):c.845T>C (p.Leu282Pro) rs1558263254
NM_003238.6(TGFB2):c.848T>C (p.Leu283Pro) rs2102628571
NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)
NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)
NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)
NM_003238.6(TGFB2):c.915T>A (p.Asp305Glu) rs1553303217
NM_003238.6(TGFB2):c.917C>A (p.Ala306Glu) rs989462091
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)
NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys) rs750774144
NM_003238.6(TGFB2):c.929T>A (p.Phe310Tyr) rs1659965863
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg) rs1660004413
NM_003238.6(TGFB2):c.950G>C (p.Cys317Ser) rs1553303351
NM_003238.6(TGFB2):c.971T>C (p.Ile324Thr) rs2102630032
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu) rs1660005627
NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)
NM_003238.6(TGFB2):c.981G>T (p.Lys327Asn) rs1085307561
NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly) rs2102630044

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