ClinVar Miner

List of variants in gene FBN1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln) rs780993677 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe) rs1057518881
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter) rs2043683891
NM_000138.5(FBN1):c.2418A>G (p.Glu806=) rs794728191
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.5(FBN1):c.3083-2A>G rs2043529474
NM_000138.5(FBN1):c.3222C>A (p.Cys1074Ter) rs2043525934
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3654C>G (p.Ser1218Arg) rs760712674
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) rs2043485390
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer) rs1555398170
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.526dup (p.Gln176fs) rs2044514951
NM_000138.5(FBN1):c.5416del (p.Cys1806fs) rs1057518912
NM_000138.5(FBN1):c.5789-13G>A rs777593835
NM_000138.5(FBN1):c.6053T>C (p.Val2018Ala) rs2043117596
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile) rs1057518812
NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys) rs1057518809
NM_000138.5(FBN1):c.7829A>G (p.Glu2610Gly) rs1555393889
NM_000138.5(FBN1):c.8016T>G (p.Cys2672Trp) rs1057518883
NM_000138.5(FBN1):c.840_843del (p.Asn280fs) rs1057518909

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