ClinVar Miner

List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 2D by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)	rs776438003

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