ClinVar Miner

List of variants reported as benign for Pontocerebellar hypoplasia type 1A

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Total variants: 13
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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.45A>G (p.Ala15=) rs2145635 0.32398
NM_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500

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