ClinVar Miner

List of variants in gene OFD1 reported as likely pathogenic for Joubert syndrome 10

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.2387+1G>A rs2047914412
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005

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