ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.-96C>A rs1004111898 0.00029
NM_003238.6(TGFB2):c.*45A>G rs769232186 0.00024
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_003238.6(TGFB2):c.*589C>A rs886045981 0.00010
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu) rs750324465 0.00006
NM_003238.6(TGFB2):c.518A>G (p.Lys173Arg) rs749692412 0.00004
NM_003238.6(TGFB2):c.-679G>A rs886045964 0.00003
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile) rs757551766 0.00003
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*782del rs886045983 0.00001
NM_003238.6(TGFB2):c.*962A>G rs886045984 0.00001
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met) rs376159002 0.00001
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg) rs371241859 0.00001
NM_003238.6(TGFB2):c.474A>T (p.Lys158Asn) rs775251473 0.00001
NM_003238.6(TGFB2):c.548G>A (p.Arg183His) rs773177511 0.00001
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser) rs769911912 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val) rs866788278 0.00001
NM_003238.6(TGFB2):c.*1233dup rs532376886
NM_003238.6(TGFB2):c.-1278AAGAGA[3] rs886045957
NM_003238.6(TGFB2):c.-652GCACAC[3] rs765496001
NM_003238.6(TGFB2):c.-699A>C rs886045961
NM_003238.6(TGFB2):c.154A>G (p.Ser52Gly) rs771351240
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser) rs747128130
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr) rs765477784
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu) rs1553292141
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly) rs759729701

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