ClinVar Miner

List of variants in gene OFD1 reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) rs1569163423
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) rs1569164733
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) rs1569164829
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
Single allele

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