ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp) rs55751315 0.00006
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003242.6(TGFBR2):c.1027A>G (p.Ser343Gly) rs758614833 0.00003
NM_003242.6(TGFBR2):c.374A>G (p.Glu125Gly) rs762282124 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu) rs767120937 0.00002
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003242.6(TGFBR2):c.1016G>A (p.Arg339Gln) rs727503473 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met) rs770352403 0.00001
NM_003242.6(TGFBR2):c.1254+6T>A rs1026852885 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1431G>C (p.Lys477Asn) rs1182402824 0.00001
NM_003242.6(TGFBR2):c.1435C>T (p.Arg479Trp) rs1444024775 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1484G>A (p.Arg495Gln) rs1305853447 0.00001
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser) rs780087626 0.00001
NM_003242.6(TGFBR2):c.1519C>T (p.His507Tyr) rs747068726 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro) rs540920930 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro) rs1346274891 0.00001
NM_003242.6(TGFBR2):c.469A>T (p.Asn157Tyr) rs1203996192 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln) rs748437880 0.00001
NM_003242.6(TGFBR2):c.596C>T (p.Ser199Leu) rs1431838247 0.00001
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser) rs773431795 0.00001
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp) rs775640617 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 0.00001
NM_003242.6(TGFBR2):c.644A>G (p.His215Arg) rs1252128858 0.00001
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys) rs748195637 0.00001
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val) rs761231369 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys) rs767919854 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys) rs1210616464 0.00001
NM_003242.6(TGFBR2):c.851A>G (p.Tyr284Cys) rs374708133 0.00001
NM_003242.6(TGFBR2):c.94+6T>G rs1269699495 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala) rs754785934 0.00001
NM_003242.6(TGFBR2):c.962A>G (p.Tyr321Cys) rs1553630191 0.00001
NM_003242.6(TGFBR2):c.-15G>C
NM_003242.6(TGFBR2):c.-5C>T
NM_003242.6(TGFBR2):c.-9G>T rs1406962229
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe) rs1699354286
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu) rs727503473
NM_003242.6(TGFBR2):c.1039del (p.Leu347fs) rs1699355189
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His) rs984098699
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn) rs2125435790
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1078C>T (p.His360Tyr) rs189119533
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala) rs777332888
NM_003242.6(TGFBR2):c.109A>C (p.Ile37Leu)
NM_003242.6(TGFBR2):c.1118T>A (p.Met373Lys) rs1699357750
NM_003242.6(TGFBR2):c.1166A>G (p.Asn389Ser) rs1049576348
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1193T>G (p.Phe398Cys) rs1699359959
NM_003242.6(TGFBR2):c.1213G>A (p.Asp405Asn) rs1699360600
NM_003242.6(TGFBR2):c.1226_1229del (p.Ser409fs) rs1699360883
NM_003242.6(TGFBR2):c.1228G>A (p.Val410Met)
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1246A>T (p.Ser416Cys) rs1060501983
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
NM_003242.6(TGFBR2):c.1264G>T (p.Ala422Ser) rs2125438757
NM_003242.6(TGFBR2):c.1300A>T (p.Met434Leu)
NM_003242.6(TGFBR2):c.1369A>G (p.Met457Val) rs2125439320
NM_003242.6(TGFBR2):c.136A>G (p.Lys46Glu) rs1553627148
NM_003242.6(TGFBR2):c.1371G>T (p.Met457Ile) rs1218684641
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile) rs1699394098
NM_003242.6(TGFBR2):c.1396+5_1396+11del rs1699394596
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu) rs772201128
NM_003242.6(TGFBR2):c.1518C>A (p.Asn506Lys) rs2125452270
NM_003242.6(TGFBR2):c.1549T>A (p.Leu517Met) rs1559473413
NM_003242.6(TGFBR2):c.1596G>T (p.Gln532His) rs750806566
NM_003242.6(TGFBR2):c.1629T>A (p.His543Gln)
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu) rs1178327690
NM_003242.6(TGFBR2):c.1653_1665dup (p.Lys556fs) rs767015322
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys) rs1325892805
NM_003242.6(TGFBR2):c.1676_1677del (p.Glu559fs) rs2125455762
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.1682G>A (p.Gly561Asp) rs1559473531
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser) rs1432089303
NM_003242.6(TGFBR2):c.199_203del (p.Cys67fs)
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
NM_003242.6(TGFBR2):c.259G>C (p.Val87Leu)
NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr) rs1559458806
NM_003242.6(TGFBR2):c.278A>G (p.Glu93Gly) rs1182342277
NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val) rs1242885838
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr) rs1698856374
NM_003242.6(TGFBR2):c.325C>G (p.His109Asp) rs778838598
NM_003242.6(TGFBR2):c.371A>C (p.Lys124Thr) rs776374040
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.389G>T (p.Gly130Val) rs1698859109
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.416G>T (p.Ser139Ile)
NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile) rs1182907194
NM_003242.6(TGFBR2):c.454+8_454+9del rs1489925744
NM_003242.6(TGFBR2):c.462C>G (p.Asn154Lys) rs1699338437
NM_003242.6(TGFBR2):c.467G>T (p.Ser156Ile) rs1699338540
NM_003242.6(TGFBR2):c.476_483del (p.Asp159fs) rs1699338750
NM_003242.6(TGFBR2):c.497A>G (p.Gln166Arg) rs770804409
NM_003242.6(TGFBR2):c.506G>T (p.Gly169Val) rs1699339733
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.547A>G (p.Ile183Val)
NM_003242.6(TGFBR2):c.550A>C (p.Ile184Leu) rs1371905176
NM_003242.6(TGFBR2):c.562T>G (p.Cys188Gly)
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.581A>T (p.Gln194Leu) rs2125433612
NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val) rs1697933766
NM_003242.6(TGFBR2):c.604G>A (p.Glu202Lys) rs1699342734
NM_003242.6(TGFBR2):c.620G>C (p.Arg207Pro) rs371209879
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.630G>A (p.Met210Ile) rs1699343672
NM_003242.6(TGFBR2):c.634T>C (p.Phe212Leu) rs1699343778
NM_003242.6(TGFBR2):c.647G>A (p.Cys216Tyr) rs1699344317
NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn) rs2125433876
NM_003242.6(TGFBR2):c.686C>T (p.Ser229Phe)
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003242.6(TGFBR2):c.770A>G (p.Glu257Gly) rs2125434288
NM_003242.6(TGFBR2):c.795G>T (p.Gln265His) rs1412125264
NM_003242.6(TGFBR2):c.809A>G (p.Gln270Arg) rs1699347991
NM_003242.6(TGFBR2):c.842A>T (p.Tyr281Phe) rs1210616464
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.900G>T (p.Lys300Asn) rs2125434971
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.937C>G (p.Arg313Gly)
NM_003242.6(TGFBR2):c.938G>C (p.Arg313Pro)
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.95-3C>G rs375330013
NM_003242.6(TGFBR2):c.95-5_95-3del
NM_003242.6(TGFBR2):c.960A>C (p.Gln320His)
NM_003242.6(TGFBR2):c.964T>C (p.Trp322Arg)
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser) rs2125404654
NM_003242.6(TGFBR2):c.997C>G (p.Leu333Val) rs1699353812

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