ClinVar Miner

List of variants reported as likely pathogenic by Institute of Medical Genetics,University of Zurich

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Total variants: 4
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HGVS dbSNP
NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162
NM_198525.3(KIF7):c.423_428del (p.His142_Val143del) rs1555425036

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