ClinVar Miner

List of variants in gene CPLANE1 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 8
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NM_023073.3(CPLANE1):c.1281T>A (p.Asp427Glu) rs1416115425
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_023073.3(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483
NM_023073.3(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.9292G>A (p.Gly3098Arg) rs144081297

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