ClinVar Miner

List of variants studied for Congenital pontocerebellar hypoplasia

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) rs779945821 0.00003
NM_016059.5(PPIL1):c.280+1G>A rs374639625 0.00002
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) rs1774173253 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) rs765668519 0.00001
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) rs2150653717
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) rs199818754
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) rs2150653427
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) rs1583103432
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) rs2150653422
NM_019024.3(HEATR5B):c.5050+4A>G rs1667224478
NM_019024.3(HEATR5B):c.5051-1G>A rs1667163007

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