ClinVar Miner

List of variants in gene ODAD2 reported as likely pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018076.5(ODAD2):c.576-2A>T rs149274011 0.00011
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NC_000010.11:g.(?_27860625)_(27862622_?)del
NM_018076.2(ODAD2):c.1143-487_1986+160dup
NM_018076.5(ODAD2):c.1143-1G>T rs1554822213
NM_018076.5(ODAD2):c.2010dup (p.Ala671fs) rs1564526396
NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu) rs1564439559
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) rs587777047
NM_018076.5(ODAD2):c.2800-2A>G rs1297261096
NM_018076.5(ODAD2):c.820-1G>A
NM_018076.5(ODAD2):c.936+1G>T

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