ClinVar Miner

List of variants reported as benign for Pontocerebellar hypoplasia type 1A by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003384.3(VRK1):c.217-244T>C	rs12586511	0.34167
NM_003384.3(VRK1):c.705C>T (p.Gly235=)	rs2230532	0.32707
NM_003384.3(VRK1):c.1159+43C>G	rs45457797	0.08564

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