ClinVar Miner

List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University

Included ClinVar conditions (33):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser) rs1597581005
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro) rs193922179
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
NM_000138.5(FBN1):c.1888A>C (p.Asn630His) rs1555399821
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) rs1597574308
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg) rs113604459
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg) rs1597574236
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys) rs794728194
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg) rs1597631662
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer) rs1597623670
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly) rs1555396419
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg) rs1597529748
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro) rs1597593736
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp) rs1597520625
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp) rs1480832655
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly) rs1597587453

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