ClinVar Miner

List of variants in gene CEP83 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_016122.3(CEP83):c.121C>T (p.Arg41Ter) rs587777486
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter) rs587777488
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro) rs587777487
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter) rs1207804224
NM_016122.3(CEP83):c.2072_2074AAC[1] (p.Gln692del) rs879255576
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter) rs368619022
NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del) rs879255575
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)

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