ClinVar Miner

List of variants reported by Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256 0.00002
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NC_000015.10:g.(48508704_48510046)_(48526257_48534080)del
NC_000015.10:g.(99976222_99993049)_(99997590_100048857)del
NM_000138.5(FBN1):c.329C>G (p.Ser110Cys)
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.5261G>A (p.Gly1754Asp)
NM_021224.6(ZNF462):c.1151del (p.Asn384fs)
NM_021224.6(ZNF462):c.1690C>T (p.Gln564Ter)
NM_021224.6(ZNF462):c.2726del (p.His909fs)
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
NM_021224.6(ZNF462):c.4390G>A (p.Ala1464Thr)
NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter)
NM_021224.6(ZNF462):c.5323C>T (p.Gln1775Ter)
NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter)
NM_021224.6(ZNF462):c.6303C>G (p.His2101Gln)
NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp)
NM_030957.4(ADAMTS10):c.1183G>A (p.Gly395Arg)
NM_030957.4(ADAMTS10):c.1219A>G (p.Asn407Asp)
NM_030957.4(ADAMTS10):c.1462C>A (p.Arg488Ser)
NM_030957.4(ADAMTS10):c.1893C>A (p.Tyr631Ter)
NM_030957.4(ADAMTS10):c.2720G>A (p.Arg907His)
NM_030957.4(ADAMTS10):c.2986C>T (p.Arg996Cys)
NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly)
NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln)
NM_030957.4(ADAMTS10):c.726_727del (p.Glu242fs)
NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)
NM_139057.4(ADAMTS17):c.1630G>T (p.Gly544Ter)
NM_139057.4(ADAMTS17):c.2560C>T (p.Arg854Ter)

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