ClinVar Miner

List of variants in gene FBN1 reported as pathogenic for acromelic dysplasia

Included ClinVar conditions (61):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) rs1555396783
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp) rs1064797059
NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr) rs387906624
NM_000138.5(FBN1):c.5202_5204dup (p.Gln1735dup) rs587776863
NM_000138.5(FBN1):c.5243G>T (p.Cys1748Phe) rs1566902569
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg) rs1131692052
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7249del (p.Glu2417fs) rs2141226991
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) rs2141211556

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