ClinVar Miner

List of variants studied for Spondyloepiphyseal dysplasia with congenital joint dislocations by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.436T>C (p.Ser146Pro)
NM_004273.5(CHST3):c.491C>T (p.Pro164Leu) rs771866012
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.904G>C (p.Asp302His) rs1316347883

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