ClinVar Miner

List of variants reported as pathogenic for Renpenning syndrome 1 by Baylor Miraca Genetics Laboratories,

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Total variants: 2
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HGVS dbSNP
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) rs606231196

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