ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by Gharavi Laboratory,Columbia University

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Total variants: 6
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HGVS dbSNP
NM_023073.3(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_023073.3(CPLANE1):c.5363_5365del (p.Leu1788del) rs1561522930
NM_023073.3(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del) rs1561476971
NM_023073.3(CPLANE1):c.8164_8166delinsTTT (p.Glu2722Phe) rs1561422940
NM_023073.3(CPLANE1):c.895G>T (p.Gly299Ter) rs1561704278
NM_023073.3(CPLANE1):c.9539_9541TGG[1] (p.Val3181del) rs1561271347

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