ClinVar Miner

List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 2D by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.388+3A>G	rs757504141	0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)	rs202043298	0.00006
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)	rs373439857	0.00001

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