ClinVar Miner

List of variants reported for Spondyloenchondrodysplasia with immune dysregulation by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)	rs2512727138
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)	rs2512726334
NM_001611.5(ACP5):c.627_634delinsCCTACC (p.Trp209fs)
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp)	rs2145082191

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