ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2D by Institute for Genomic Medicine, Nationwide Children's Hospital

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Total variants: 2

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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.1A>T (p.Met1Leu)	rs1025711998

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