ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.*556A>C rs188324716 0.00124
NM_018451.5(CENPJ):c.*890T>C rs17480581 0.00011
NM_018451.5(CENPJ):c.*404CT[1] rs141666267

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