ClinVar Miner

List of variants in gene TGFB2 studied for Loeys-Dietz syndrome

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Total variants: 73
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HGVS dbSNP
NM_001135599.3(TGFB2):c.*1128G>A rs56271792
NM_001135599.3(TGFB2):c.*1198A>G rs556560548
NM_001135599.3(TGFB2):c.*1229T>C rs781757001
NM_001135599.3(TGFB2):c.*1233T>A rs555872587
NM_001135599.3(TGFB2):c.*1233del rs532376886
NM_001135599.3(TGFB2):c.*1233dup rs532376886
NM_001135599.3(TGFB2):c.*135G>A rs61762489
NM_001135599.3(TGFB2):c.*201A>T rs900
NM_001135599.3(TGFB2):c.*2839G>A rs6704255
NM_001135599.3(TGFB2):c.*2950G>A rs147957308
NM_001135599.3(TGFB2):c.*2980G>C rs886045993
NM_001135599.3(TGFB2):c.*3141A>G rs886045994
NM_001135599.3(TGFB2):c.*3196C>T rs6683598
NM_001135599.3(TGFB2):c.*338_*343dup rs11118106
NM_001135599.3(TGFB2):c.*39G>A rs11466412
NM_001135599.3(TGFB2):c.*45A>G rs769232186
NM_001135599.3(TGFB2):c.*589C>A rs886045981
NM_001135599.3(TGFB2):c.*720T>C rs544540486
NM_001135599.3(TGFB2):c.*747A>C rs991967
NM_001135599.3(TGFB2):c.*772C>T rs886045982
NM_001135599.3(TGFB2):c.*782del rs886045983
NM_001135599.3(TGFB2):c.*799del rs57430619
NM_001135599.3(TGFB2):c.*962A>G rs886045984
NM_001135599.3(TGFB2):c.-1016C>T rs11466365
NM_001135599.3(TGFB2):c.-113_-110dup rs10482719
NM_001135599.3(TGFB2):c.-1153G>T rs886045959
NM_001135599.3(TGFB2):c.-1271A>G rs886045958
NM_001135599.3(TGFB2):c.-1272_-1267dup rs886045957
NM_001135599.3(TGFB2):c.-1302A>G rs10482718
NM_001135599.3(TGFB2):c.-288A>T rs116531760
NM_001135599.3(TGFB2):c.-338T>A rs148765724
NM_001135599.3(TGFB2):c.-45del rs200186989
NM_001135599.3(TGFB2):c.-542C>T rs886045973
NM_001135599.3(TGFB2):c.-569T>C rs886045972
NM_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.-620G>A rs886045971
NM_001135599.3(TGFB2):c.-622_-621del rs151329324
NM_001135599.3(TGFB2):c.-622_-621dup rs151329324
NM_001135599.3(TGFB2):c.-624_-621dup rs151329324
NM_001135599.3(TGFB2):c.-626_-621dup rs151329324
NM_001135599.3(TGFB2):c.-644A>G rs747761067
NM_001135599.3(TGFB2):c.-645_-644insCCACGC rs886045967
NM_001135599.3(TGFB2):c.-646G>A rs886045968
NM_001135599.3(TGFB2):c.-646_-641dup rs765496001
NM_001135599.3(TGFB2):c.-663C>T rs886045965
NM_001135599.3(TGFB2):c.-677T>C rs112369231
NM_001135599.3(TGFB2):c.-679G>A rs886045964
NM_001135599.3(TGFB2):c.-682C>G rs886045963
NM_001135599.3(TGFB2):c.-683C>A rs886045962
NM_001135599.3(TGFB2):c.-699A>C rs886045961
NM_001135599.3(TGFB2):c.-714A>C rs73110310
NM_001135599.3(TGFB2):c.-746G>T rs576053414
NM_001135599.3(TGFB2):c.-784C= rs1557153
NM_001135599.3(TGFB2):c.-794T>C rs886045960
NM_001135599.3(TGFB2):c.1113C>T (p.Ala371=) rs886045979
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.1265T>C (p.Ile422Thr) rs886045980
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.37C>A (p.His13Asn) rs763918203
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.441G>A (p.Pro147=) rs138514914
NM_001135599.3(TGFB2):c.454dup (p.Arg152Lysfs) rs869025533
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.52G>A (p.Ala18Thr) rs886045975
NM_001135599.3(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_001135599.3(TGFB2):c.594+38_594+43del rs10482769
NM_001135599.3(TGFB2):c.594+38_594+43dup rs10482769
NM_001135599.3(TGFB2):c.594+41_594+43del rs10482769
NM_001135599.3(TGFB2):c.628C>T (p.Gln210Ter) rs730880221
NM_001135599.3(TGFB2):c.673G>A (p.Glu225Lys) rs764028978
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.754T>G (p.Leu252Val) rs886045978
NM_001135599.3(TGFB2):c.882T>A (p.Thr294=) rs376354795

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