ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_023073.3(CPLANE1):c.570+2T>A rs1321423759
NM_023073.3(CPLANE1):c.677+1G>C rs1414913269
NM_023073.3(CPLANE1):c.7588+1G>A rs1561458987
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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