ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) rs4252345
NM_003239.4(TGFB3):c.288C>T (p.Thr96=) rs201047560
NM_003239.4(TGFB3):c.34C>T (p.Leu12=) rs143612445
NM_003239.4(TGFB3):c.387C>T (p.Ser129=) rs749768136
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.744C>A (p.Ile248=) rs45477900
NM_003239.4(TGFB3):c.88T>C (p.Leu30=) rs3917145

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