ClinVar Miner

List of variants reported as uncertain significance for Marfan and Marfan-related disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 0.00002
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.2929A>G (p.Met977Val) rs776833421
NM_000138.5(FBN1):c.3589+3A>G rs2043513649
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg) rs2141252219
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574

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