ClinVar Miner

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

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Total variants: 6
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NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222

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