ClinVar Miner

List of variants in gene CPLANE1 reported as pathogenic by Invitae

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Total variants: 24
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1877del (p.Ser626fs) rs1327245073
NM_023073.3(CPLANE1):c.2422_2423del (p.Leu808fs) rs1242532564
NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs) rs1228082731
NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4890dup (p.Ser1631fs) rs1554083251
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657
NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter)
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7936_7937del (p.Pro2646fs) rs1554068790
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) rs1554064102
NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) rs775263897
NM_023073.3(CPLANE1):c.8471-1G>C rs1561376123
NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) rs141507441
NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) rs1345413118
NM_023073.3(CPLANE1):c.8834del (p.Lys2945fs) rs1554050342
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382

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