ClinVar Miner

List of variants in gene CPLANE1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 7
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NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3676C>T (p.Arg1226Ter) rs749421099
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.5397T>G (p.Tyr1799Ter) rs759881074
NM_023073.3(CPLANE1):c.5900+1G>T rs1554080188
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155

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