ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2D by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) rs773876739

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