ClinVar Miner

List of variants in gene TGFB3 reported as likely pathogenic for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_003239.4(TGFB3):c.353-1G>C rs1555360883
NM_003239.4(TGFB3):c.517-1G>C
NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003239.4(TGFB3):c.916del (p.Tyr306Thrfs) rs1555360362

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