ClinVar Miner

List of variants in gene FBN2 reported by Blueprint Genetics

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Gene type:
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Total variants: 16
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NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly) rs761066631
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.1849+8A>G rs747219934
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3295C>T (p.Arg1099Cys) rs755510043
NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val) rs869025428
NM_001999.4(FBN2):c.3811G>T (p.Gly1271Cys) rs745509023
NM_001999.4(FBN2):c.4100-2A>C rs1581222180
NM_001999.4(FBN2):c.4723C>T (p.Arg1575Cys) rs1581208614
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala) rs869025429
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.8376C>T (p.Ile2792=) rs142747169

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