ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
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.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) rs761400349 0.00005
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
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.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro) rs1346274891 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 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.953G>C (p.Gly318Ala) rs754785934 0.00001
NM_003242.6(TGFBR2):c.1013C>A (p.Thr338Lys)
NM_003242.6(TGFBR2):c.1102T>A (p.Cys368Ser)
NM_003242.6(TGFBR2):c.1110G>C (p.Arg370Ser)
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1129del (p.His377fs)
NM_003242.6(TGFBR2):c.1143G>C (p.Lys381Asn)
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
NM_003242.6(TGFBR2):c.1202C>G (p.Ser401Cys)
NM_003242.6(TGFBR2):c.1219A>T (p.Thr407Ser)
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
NM_003242.6(TGFBR2):c.1331A>G (p.Gln444Arg)
NM_003242.6(TGFBR2):c.1334C>A (p.Thr445Asn) rs886038936
NM_003242.6(TGFBR2):c.1396+1G>A rs528566980
NM_003242.6(TGFBR2):c.1399G>A (p.Val467Ile)
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.6(TGFBR2):c.1463A>G (p.Lys488Arg)
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003242.6(TGFBR2):c.1526G>A (p.Gly509Asp)
NM_003242.6(TGFBR2):c.1555G>C (p.Glu519Gln)
NM_003242.6(TGFBR2):c.1565A>T (p.Asp522Val) rs886038768
NM_003242.6(TGFBR2):c.1678G>T (p.Asp560Tyr)
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.17T>C (p.Leu6Pro)
NM_003242.6(TGFBR2):c.182G>A (p.Cys61Tyr) rs2125404783
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser) rs1432089303
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.305A>G (p.His102Arg) rs777472799
NM_003242.6(TGFBR2):c.424G>A (p.Glu142Lys)
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.460A>G (p.Asn154Asp)
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
NM_003242.6(TGFBR2):c.484C>A (p.Leu162Ile)
NM_003242.6(TGFBR2):c.500T>C (p.Val167Ala) rs779052721
NM_003242.6(TGFBR2):c.500T>G (p.Val167Gly)
NM_003242.6(TGFBR2):c.509T>G (p.Ile170Ser)
NM_003242.6(TGFBR2):c.560_562del (p.Tyr187del)
NM_003242.6(TGFBR2):c.766G>C (p.Ala256Pro)
NM_003242.6(TGFBR2):c.795G>C (p.Gln265His)
NM_003242.6(TGFBR2):c.826G>T (p.Val276Phe) rs1699348482
NM_003242.6(TGFBR2):c.878TCT[1] (p.Phe294del)
NM_003242.6(TGFBR2):c.87G>T (p.Gln29His)
NM_003242.6(TGFBR2):c.893A>C (p.Asn298Thr)
NM_003242.6(TGFBR2):c.901C>T (p.His301Tyr)
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.907A>C (p.Asn303His) rs773932892
NM_003242.6(TGFBR2):c.912A>G (p.Ile304Met)
NM_003242.6(TGFBR2):c.964T>C (p.Trp322Arg)
NM_003242.6(TGFBR2):c.976G>A (p.Ala326Thr)

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