ClinVar Miner

List of variants in gene CPLANE1 reported as likely pathogenic

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Total variants: 22
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HGVS dbSNP
NM_023073.3(CPLANE1):c.2278C>T
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.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162
NM_023073.3(CPLANE1):c.5397T>G (p.Tyr1799Ter) rs759881074
NM_023073.3(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_023073.3(CPLANE1):c.570+2T>A rs1321423759
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.5900+1G>T rs1554080188
NM_023073.3(CPLANE1):c.677+1G>C rs1414913269
NM_023073.3(CPLANE1):c.7588+1G>A rs1561458987
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_023073.3(CPLANE1):c.9019_9023+1del rs750972473
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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