ClinVar Miner

List of variants studied for Geleophysic dysplasia 2

Included ClinVar conditions (2):
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Total variants: 49
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HGVS dbSNP
NC_000015.10:g.48496208_48496218delGTACACATTCA
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.164+5A>G rs397515760
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.2206A>G (p.Asn736Asp) rs878853678
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) rs145464311
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) rs144339604
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr) rs776625874
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
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)
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.4(FBN1):c.5546-1G>A
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182
NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379
NM_000138.4(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) rs193922245

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