ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.-620G>A rs886045971 0.01029
NM_003238.6(TGFB2):c.-644A>G rs747761067 0.00246
NM_003238.6(TGFB2):c.-338T>A rs148765724 0.00074
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_003238.6(TGFB2):c.*2053G>A rs530767727 0.00039
NM_003238.6(TGFB2):c.*2496A>G rs745522168 0.00029
NM_003238.6(TGFB2):c.-96C>A rs1004111898 0.00029
NM_003238.6(TGFB2):c.*45A>G rs769232186 0.00024
NM_003238.6(TGFB2):c.*1338T>A rs574858097 0.00013
NM_003238.6(TGFB2):c.*589C>A rs886045981 0.00010
NM_003238.6(TGFB2):c.*1428T>C rs770610828 0.00009
NM_003238.6(TGFB2):c.*2352T>G rs537275941 0.00009
NM_003238.6(TGFB2):c.*1271A>G rs572446864 0.00007
NM_003238.6(TGFB2):c.*1034A>C rs932331054 0.00006
NM_003238.6(TGFB2):c.*1229T>C rs781757001 0.00006
NM_003238.6(TGFB2):c.*3193A>G rs1161476569 0.00006
NM_003238.6(TGFB2):c.*972A>C rs565195408 0.00006
NM_003238.6(TGFB2):c.-1249G>A rs1002933360 0.00005
NM_003238.6(TGFB2):c.*2007C>T rs1007087694 0.00004
NM_003238.6(TGFB2):c.*2089A>C rs886045988 0.00004
NM_003238.6(TGFB2):c.-569T>C rs886045972 0.00003
NM_003238.6(TGFB2):c.-679G>A rs886045964 0.00003
NM_003238.6(TGFB2):c.-682C>G rs886045963 0.00003
NM_003238.6(TGFB2):c.-794T>C rs886045960 0.00003
NM_003238.6(TGFB2):c.*2509G>T rs967223935 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.*1615T>C rs886045987 0.00001
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*193A>C rs1413240885 0.00001
NM_003238.6(TGFB2):c.*489A>G rs558071814 0.00001
NM_003238.6(TGFB2):c.*962A>G rs886045984 0.00001
NM_003238.6(TGFB2):c.-1153G>T rs886045959 0.00001
NM_003238.6(TGFB2):c.-540A>T rs868385461 0.00001
NM_003238.6(TGFB2):c.-616G>A rs1018085683 0.00001
NM_003238.6(TGFB2):c.-683C>A rs886045962 0.00001
NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr) rs886045980 0.00001
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr) rs886045975 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003238.6(TGFB2):c.*1431A>C rs1660199096
NM_003238.6(TGFB2):c.*2421G>T rs1660233472
NM_003238.6(TGFB2):c.*2617T>C rs886045992
NM_003238.6(TGFB2):c.*2980G>C rs886045993
NM_003238.6(TGFB2):c.*3076G>A rs1660255565
NM_003238.6(TGFB2):c.*3141A>G rs886045994
NM_003238.6(TGFB2):c.*3210C>T rs767736529
NM_003238.6(TGFB2):c.*338C>T rs1660159523
NM_003238.6(TGFB2):c.*772C>T rs886045982
NM_003238.6(TGFB2):c.-101A>G rs1656685944
NM_003238.6(TGFB2):c.-1237G>C rs1656628678
NM_003238.6(TGFB2):c.-1271A>G rs886045958
NM_003238.6(TGFB2):c.-514T>C rs1656669231
NM_003238.6(TGFB2):c.-542C>T rs886045973
NM_003238.6(TGFB2):c.-646G>A rs886045968
NM_003238.6(TGFB2):c.-663C>T rs886045965
NM_003238.6(TGFB2):c.-699A>C rs886045961
NM_003238.6(TGFB2):c.-758G>C rs954024485
NM_003238.6(TGFB2):c.1029C>T (p.Ala343=) rs886045979
NM_003238.6(TGFB2):c.347-10T>A rs1419643875
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_003238.6(TGFB2):c.670T>G (p.Leu224Val) rs886045978
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val) rs1659906438

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