ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001080510.5(METTL23):c.407+6T>C rs1373087430 0.00001
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662

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