ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 4 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003238.5(TGFB2):c.1013C>A (p.Pro338His) rs387907278
NM_003238.5(TGFB2):c.1022_1026del (p.Tyr341fs) rs398122884
NM_003238.5(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.5(TGFB2):c.687C>A (p.Cys229Ter) rs398122885
NM_003238.5(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352

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