ClinVar Miner

List of variants studied for bone disorder by Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256 0.00003
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) rs2505775608
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) rs2505485551
NM_021224.6(ZNF462):c.1151del (p.Asn384fs) rs2538729222
NM_021224.6(ZNF462):c.1690C>T (p.Gln564Ter) rs1379106674
NM_021224.6(ZNF462):c.2726del (p.His909fs) rs2538759243
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs) rs2538791482
NM_021224.6(ZNF462):c.4390G>A (p.Ala1464Thr) rs775687483
NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter) rs1418374583
NM_021224.6(ZNF462):c.5323C>T (p.Gln1775Ter) rs2538810845
NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter) rs1830597071
NM_021224.6(ZNF462):c.6303C>G (p.His2101Gln) rs529200048
NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp) rs782097535
NM_030957.4(ADAMTS10):c.1183G>A (p.Gly395Arg) rs781920954
NM_030957.4(ADAMTS10):c.1219A>G (p.Asn407Asp) rs2512622286
NM_030957.4(ADAMTS10):c.1462C>A (p.Arg488Ser) rs782720992
NM_030957.4(ADAMTS10):c.1893C>A (p.Tyr631Ter) rs1235872718
NM_030957.4(ADAMTS10):c.2720G>A (p.Arg907His) rs2512575769
NM_030957.4(ADAMTS10):c.2986C>T (p.Arg996Cys) rs1159059721
NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly) rs1339572177
NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln) rs1555741462
NM_030957.4(ADAMTS10):c.726_727del (p.Glu242fs) rs2512639575
NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile) rs2548477838
NM_139057.4(ADAMTS17):c.1630G>T (p.Gly544Ter) rs558730527
NM_139057.4(ADAMTS17):c.2560C>T (p.Arg854Ter) rs780563389

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