ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Massachusetts General Hospital Undiagnosed Diseases Network, Massachusetts General Hospital

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.761T>C (p.Leu254Pro) rs2107943727

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