ClinVar Miner

List of variants in gene FBN1, LOC113939944 studied for Marfan syndrome

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser) rs363855 0.00004
NM_000138.5(FBN1):c.1026C>T (p.Asn342=) rs769282306 0.00001
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys) rs752010116 0.00001
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg) rs1555400612
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) rs397515753
NM_000138.5(FBN1):c.1066del (p.Met356fs) rs1555400609
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr) rs1555400606
NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg) rs1555400604
NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr) rs1555400603
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) rs397515755
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.989-1G>C rs1555400616

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