ClinVar Miner

List of variants studied for Spondyloepiphyseal dysplasia with congenital joint dislocations by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004273.5(CHST3):c.1363C>G (p.Leu455Val) rs374954414 0.00018

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