ClinVar Miner

List of variants studied for Orofacial-digital syndrome IV by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.1222C>T (p.Gln408Ter) rs2139738553
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.566_567del (p.Glu189fs) rs793888507
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985

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