ClinVar Miner

List of variants in gene FBN1 reported as pathogenic for Geleophysic dysplasia 2

Included ClinVar conditions (2):
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Gene type:
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Total variants: 18
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NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.4(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr) rs387906624
NM_000138.4(FBN1):c.5243G>T (p.Cys1748Phe) rs1566902569
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349

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