ClinVar Miner

List of variants studied for Camptodactyly-arthropathy-coxa vara-pericarditis syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005807.6(PRG4):c.538C>T (p.Arg180Trp) rs2273779 0.29059
NM_005807.6(PRG4):c.3138A>G (p.Pro1046=) rs3737940 0.27761
NM_005807.6(PRG4):c.1737T>C (p.Thr579=) rs778925933 0.02340

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