ClinVar Miner

List of variants in gene CPLANE1 reported as pathogenic by GeneDx

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Total variants: 18
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163
NM_023073.3(CPLANE1):c.3380C>A (p.Ser1127Ter) rs375009168
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.3673-1G>C rs886041688
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.57G>A (p.Trp19Ter) rs886041966
NM_023073.3(CPLANE1):c.677+2T>C rs886041870
NM_023073.3(CPLANE1):c.702G>A (p.Trp234Ter) rs1554114025
NM_023073.3(CPLANE1):c.7079del (p.Pro2360fs) rs1085307795
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.8510_8516delinsAT (p.Val2837fs) rs1064796131
NM_023073.3(CPLANE1):c.8630+1G>T rs886041757
NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) rs141507441
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275

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