ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome 4 by Invitae

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Total variants: 9
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NM_003239.4(TGFB3):c.1149G>A (p.Leu383=) rs1555360032
NM_003239.4(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.4(TGFB3):c.179C>T (p.Thr60Met) rs4252315
NM_003239.4(TGFB3):c.339G>A (p.Gly113=) rs886050798
NM_003239.4(TGFB3):c.357A>G (p.Glu119=) rs748598952
NM_003239.4(TGFB3):c.755-5T>C rs768188445
NM_003239.4(TGFB3):c.840C>T (p.Leu280=) rs746293134
NM_003239.4(TGFB3):c.948T>C (p.Cys316=) rs1364994786
NM_003239.4(TGFB3):c.99C>T (p.Gly33=) rs757663439

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