ClinVar Miner

List of variants in gene combination CENPJ, RNF17 reported as pathogenic for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) rs1060499557

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