ClinVar Miner

List of variants in gene CEP63 studied for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001042384.2(CEP63):c.129G>A (p.Trp43Ter) rs1164567042
NM_001042384.2(CEP63):c.182_185dup (p.Lys62delinsAsnTer) rs746387482
NM_001042384.2(CEP63):c.930-1G>A rs752207334

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