ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 4 by Center for Human Genetics, Inc

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_003238.5(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875
NM_003238.5(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150

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