ClinVar Miner

List of variants in gene FBN1, LOC130057019 studied for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000138.5(FBN1):c.76G>C (p.Asp26His) rs146267697 0.00018
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000138.5(FBN1):c.62C>T (p.Thr21Met) rs1489806847 0.00002
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NC_000015.10:g.(?_48596263)_(48644789_?)del
NC_000015.10:g.(?_48596273)_(48644779_?)del
NC_000015.10:g.(?_48612990)_(48644789_?)del
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.40dup (p.Thr14fs)
NM_000138.5(FBN1):c.43G>A (p.Val15Met) rs1890262474
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser) rs794728201
NM_000138.5(FBN1):c.51_52del (p.Leu17fs) rs2140787769
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro) rs1890262148
NM_000138.5(FBN1):c.57C>G (p.Ser19=) rs1890261910
NM_000138.5(FBN1):c.63G>A (p.Thr21=) rs2140787726
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala) rs768993489
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)

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