ClinVar Miner

List of variants reported as likely pathogenic for Infantile cerebellar-retinal degeneration by Genomics England Pilot Project, Genomics England

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.927G>C (p.Lys309Asn)	rs772325936	0.00001
NM_001098.3(ACO2):c.1687C>G (p.Gln563Glu)	rs2146140052
NM_001098.3(ACO2):c.865G>C (p.Glu289Gln)	rs2146127288

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