ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) rs794727601 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn) rs768457461 0.00001
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly) rs886042199 0.00001
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=) rs112945086 0.00001
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) rs148741353 0.00001
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.2114-3C>G rs886042783
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.7776C>T (p.Cys2592=) rs886042134
NM_000138.5(FBN1):c.7820-3C>A rs193922237
NM_000138.5(FBN1):c.8511T>C (p.Tyr2837=) rs1566888580

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