ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_000138.5(FBN1):c.5416del (p.Cys1806fs) rs1057518912
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg) rs2035122885
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) rs2035180317
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214

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