ClinVar Miner

List of variants reported as likely pathogenic for Orofacial-digital syndrome IV; Joubert syndrome 18 by Invitae

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.970-2A>G rs777263669

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