ClinVar Miner

List of variants in gene TCTN3 studied for Orofacial-digital syndrome IV

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.27142
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015631.6(TCTN3):c.1222C>T (p.Gln408Ter) rs2139738553
NM_015631.6(TCTN3):c.1299-3T>C rs2097944388
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter) rs2097923913
NM_015631.6(TCTN3):c.257-1G>A rs1589623689
NM_015631.6(TCTN3):c.566_567del (p.Glu189fs) rs793888507
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.969G>T (p.Gln323His)

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