ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2D by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val) rs746824533

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