ClinVar Miner

List of variants studied for Jawad syndrome by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_002894.3(RBBP8):c.428+37T>C rs2336916
NM_002894.3(RBBP8):c.605-48TCA[2] rs3052770

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