ClinVar Miner

List of variants in gene OFD1 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NM_003611.2(OFD1):c.1313C>G (p.Ser438Ter)
NM_003611.2(OFD1):c.149A>G (p.His50Arg) rs863225213
NM_003611.2(OFD1):c.2126_2129delAAAG (p.Glu709Glyfs) rs312262890
NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.2(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.2(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.2(OFD1):c.2767delG (p.Glu923Lysfs) rs312262894
NM_003611.2(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_003611.2(OFD1):c.2789_2793delTAAAA (p.Ile930Lysfs) rs797044945
NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs) rs312262895
NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) rs312262830
NM_003611.2(OFD1):c.560dup (p.Tyr187Terfs) rs1555902640
NM_003611.2(OFD1):c.688_705del18 (p.Ile230_Lys235del) rs398122866
NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) rs312262845
NM_003611.2(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.2(OFD1):c.915_916delAA (p.Arg306Serfs)
NM_003611.3(OFD1):c.2746dup (p.Tyr916Leufs)
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter)
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter)

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