ClinVar Miner

List of variants in gene CPLANE1 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs) rs1228082731
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_023073.3(CPLANE1):c.3150-1G>T rs606231258
NM_023073.3(CPLANE1):c.3290-2A>G rs606231260
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.5557C>T (p.Gln1853Ter)
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
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.7978C>T (p.Arg2660Ter) rs147416429
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.8785A>T (p.Arg2929Ter) rs1345413118
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382

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