ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.912_930del (p.Asp305fs) rs2102628675
NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser) rs104893810

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