ClinVar Miner

List of variants reported as uncertain significance for Seckel syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys) rs536675100 0.00003
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001

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