ClinVar Miner

List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by MGZ Medical Genetics Center

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
NM_000138.5(FBN1):c.4337-1G>A rs1555397424
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
NM_001999.4(FBN2):c.5917+1del
NM_001999.4(FBN2):c.91C>T (p.Gln31Ter)
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.754+1G>A
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) rs1827899415
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)

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