ClinVar Miner

List of variants studied for Geleophysic dysplasia 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
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.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.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5546-1G>A rs1566899590
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
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.6957T>C (p.Asn2319=) rs1290478839

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