ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia, type 14 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016059.5(PPIL1):c.349G>A (p.Ala117Thr) rs568130003 0.00008
NM_016059.5(PPIL1):c.350C>A (p.Ala117Asp) rs201473369

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