ClinVar Miner

List of variants reported as likely pathogenic for Orofaciodigital syndrome type 6; Joubert syndrome 17 by Invitae

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Total variants: 3
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NM_001384732.1(CPLANE1):c.570+2T>A rs1321423759
NM_001384732.1(CPLANE1):c.677+1G>C rs1414913269
NM_001384732.1(CPLANE1):c.7588+1G>A rs1561458987

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