ClinVar Miner

List of variants studied for Marfan syndrome by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.(?_48470634)_(48470756_?)del
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs) rs1060501058
NM_000138.4(FBN1):c.5423-?_*2684+?del
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1572del (p.Arg525fs) rs1060501096
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs) rs1060501027
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3893del (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs) rs1555398160
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs) rs1060501031
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.6164-1G>A rs1060501048
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs) rs1555394445
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs) rs1060501042
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094

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